ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.3076G>C (p.Val1026Leu)

gnomAD frequency: 0.00545  dbSNP: rs149922601
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519245 SCV001728075 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001519245 SCV002034230 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796907 SCV002037731 benign not specified no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV001796907 SCV003839481 likely benign not specified 2022-09-06 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003948542 SCV004759842 benign ERCC6L2-related disorder 2021-01-04 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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