ClinVar Miner

Submissions for variant NM_001983.4(ERCC1):c.225G>A (p.Thr75=)

gnomAD frequency: 0.01227  dbSNP: rs3212947
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585407 SCV001819307 likely benign not provided 2021-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001585407 SCV002416491 benign not provided 2025-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001585407 SCV005209669 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003921251 SCV004736273 benign ERCC1-related disorder 2019-07-15 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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