ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn)

gnomAD frequency: 0.00234  dbSNP: rs114234514
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000359194 SCV000341108 benign not specified 2016-04-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000871694 SCV001013387 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000871694 SCV002097559 uncertain significance not provided 2022-02-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004535383 SCV004711207 benign ERCC6-related disorder 2019-06-17 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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