ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1320T>C (p.Phe440=)

dbSNP: rs2141606968
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001465921 SCV001669920 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-11-08 criteria provided, single submitter clinical testing

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