Classification and interpretation of germline SNVs and indels

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Classification and interpretation of germline sequence variants. Submit a clinical report.(this EQA was previously named 'pathogenicity of germline sequence variants)

EQA INFORMATION

EQA Code

VGI

Submission

Clinical Report

Techniques

N/A

Eligibility

All laboratories worldwide.

Language

English only

EQA Accreditation

EQA accredited to ISO 17043:2023

EQA open

06 October 2025

Testing period

6 weeks

OTHER INFORMATION

The EQA is suitable for laboratories who provide both the classification and clinical interpretation of sequence variants in a diagnostic report. Please complete the cases even if your laboratory does not routinely test for the disorder listed. Cases are the same as those used for the GenQA Classification only EQA.

What are participants required to do?

Enrolled participants will receive details by email when an EQA is open for assessment and/or samples have been dispatched.
Participants are expected to access the instructions and information for the cases/samples online and to analyse them according to their laboratory/centre protocols.
Participants must submit their anonymised results by the deadline using their standard laboratory report or a proforma provided by GenQA. The submitted results are independently assessed for the accuracy of the analytical/genotyping results, clinical interpretation of the results (if appropriate) and clerical accuracy (including report layout and content).

What can I expect as a participant?

Every participant will receive:

An Individual Laboratory/Centre Report (ILR/ICR) with educational advice for each distribution of this EQA.
The Summary report for each distribution of this EQA which contains information regarding general findings, a summary of methodologies used, common errors, number of participants and benchmarking.
Access to a live Performance Certificate summarising your performance status for all EQAs in which you are enrolled.

Please note: EQA details may be subject to change prior to EQA distribution.