ClinVar Miner

Submissions for variant NM_020207.7(ERCC6L2):c.21G>C (p.Gln7His)

gnomAD frequency: 0.00453  dbSNP: rs139286981
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224070 SCV000280691 likely benign not provided 2015-08-25 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000224070 SCV001099860 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000224070 SCV005222473 likely benign not provided criteria provided, single submitter not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005230129 SCV005878629 likely benign Pancytopenia-developmental delay syndrome 2024-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003929924 SCV004742944 likely benign ERCC6L2-related disorder 2019-03-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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