Elite Clinical Geneticists & Variant Scientists

We’re the Humans in the Loop of
Genomic Variant Curation

We are a collaborative group of clinical geneticists and variant scientists with extensive clinical experience based in Argentina. We resolve the interpretative bottleneck through meticulous, rigorous, and academic-grade manual curation, ready for the final sign-out by your Laboratory Director.

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GMT-3
Nearshore Synergy
Direct communication and real-time collaboration with medical geneticists during your active hours, eliminating offshoring delays.
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Local Data Footprint
We analyze data directly on your secure platform. Patient genetic information never leaves your clinical jurisdiction.
ACMG
Curation Standards
Meticulous manual variant classification and evidence packaging strictly adhering to ClinGen, ACMG, and AMP professional guidelines.
Peer-to-Peer Genomic Support

Manual Curation Services by Specialists

Collaborate with our group of clinical geneticists (MD/PhD) through structured and flexible manual curation services. Accelerate the processing of your NGS cases while maintaining the most rigorous medical control.

Module 01

HPO Phenotyping Support

Manual abstraction and coding of clinical data.

Module 02

ACMG/AMP Germline Curation

Expert classification for panels and clinical exomes.

Module 03

Oncology Somatic Pre-Curation

Clinical significance of biomarkers under ASCO/AMP guidelines.

Module 04

Reanalysis of VUS and Negative Exomes

Diagnostic rescue of historical exomes and variants without findings.

Medical Collaboration

Backed by a Highly Qualified Team

We are not an automated corporate platform; we are a collaborative group of clinical geneticists and variant scientists acting as a direct and trusted extension of your laboratory.

GMT-3 Collaboration

Perfect workday overlap with the US (EST) and Europe. We work synchronously with your team, facilitating clinical discussion meetings without the delays of Asian time zones.

Team Synergy

Each case goes through a rigorous curation cell: detailed initial analysis by a variant scientist and clinical cross-audit performed by a senior geneticist under ACMG/AMP guidelines.

Specialized Clinical Training

Our group is entirely composed of medical geneticists and molecular biology doctors (MD/PhDs) with solid experience in clinical diagnosis and high-complexity genomic reporting.

Secure Global Compliance

Argentina holds an "Adequacy Decision" from the European Commission (GDPR) and is excluded from the US DOJ's countries of concern (Bulk Data Rule 2025), ensuring legal security.

Frequently Asked Questions

Operational FAQs

Clarify doubts about medical integration, clinical responsibilities, and the rigorous processes of our group of specialists.

VariantCuration is a nearshore collaborative group of highly experienced clinical geneticists and variant scientists based in Argentina. We are not a software corporation or a generic automated platform; we operate as a top-tier human medical-scientific team (composed exclusively of medical specialists and molecular biology PhDs - MD/PhDs) that provides dedicated services for interpretation, manual curation, and drafting clinical reports for NGS laboratories.
We function as a highly specialized manual curation and scientific support layer that works directly under the supervision and guidelines of your Laboratory Director. We perform all the meticulous work of literature analysis, technical application of ACMG/AMP criteria, and HPO phenotyping, delivering a comprehensive draft report (Draft Report) and evidence pack. Your laboratory's Medical Director retains absolute control and executes the final sign-out, ensuring local clinical and regulatory compliance.
We understand that medical trust is built on demonstrating rigor. We offer qualified laboratories a Blind Validation Pilot Trial of up to 15 historical cases at zero cost and with no initial commitments. Your laboratory provides us with HPO phenotypic data and pseudonymized VCF files of cases that your team has already classified. Our scientific group analyzes them independently and delivers the technical draft report. In this way, your Laboratory Director can compare the reports blindly to verify our clinical concordance (with a target of >99.2%) and our turnaround times (SLA).
Argentina has a privileged legal framework for medical data by having an Adequacy Decision granted by the European Commission (formally ratified in 2024), which is fully recognized under the UK GDPR in the United Kingdom. This means that European and British laboratories can transfer medical data flows directly and legally to our group in Argentina without the need to draft complex and costly Standard Contractual Clauses (SCC) required for other offshore hubs.
Our technical and medical collaboration protocols allow us to guarantee excellent Turnaround Times (TAT) signed by contract:
  • Standard NGS panels (germline or oncology): 48 to 72 business hours.
  • Singleton Germline Clinical Exomes: 3 to 5 business days.
  • Trio Exomes and Complex Rare Disease Cases: 5 to 7 business days.
  • Critical Urgency Cases (e.g., NICU): Less than 24 business hours.
Our team of geneticists and molecular biologists is trained and expertly works with the industry's leading commercial and clinical tools, including VarSome Clinical, SeqOne, Congenica, or internal LIMS. In the manual genomic curation process, we perform an exhaustive clinical analysis and systematically cross-reference information in reference biological databases such as gnomAD, ClinVar, HGMD, ClinGen biological databases, and scientific literature indexed in PubMed. Our main strength and value lie in the human medical judgment of our specialists, dedicating the necessary time to carefully analyze and weigh each piece of scientific evidence.
Invitation to Collaborate

Let's Speak Peer-to-Peer

We are here to support your medical laboratory in overcoming genomic analysis and interpretation overload. Sign up to schedule a technical meeting and coordinate a free, blind validation pilot.

Peer-to-Peer Commitment

Secure BAA / NDA: We sign draft BAAs and NDAs under strict applicable legislation before you share any files or we run the blind pilot.
Confidentiality and Medical Ethics: We process clinical information in a 100% pseudonymized manner, safeguarding patient data flows with the highest ethical rigor.
Synchronous Support from Geneticists: In less than 24 business hours, our Genomic Coordinator from Argentina will contact you to schedule a brief technical call.
GDPR Adequacy
HIPAA Compliant
CISA Aligned
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