ClinVar Miner

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

gnomAD frequency: 0.01160  dbSNP: rs3212947
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Total submissions: 3
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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
Invitae RCV001585407 SCV002416491 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003921251 SCV004736273 benign ERCC1-related condition 2019-07-15 criteria provided, single submitter 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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