ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile)

dbSNP: rs780488548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300359 SCV001489496 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2021-08-31 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153976 SCV003843406 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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