ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1698G>A (p.Leu566=)

dbSNP: rs2141607987
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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 RCV001490164 SCV001694723 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2021-01-09 criteria provided, single submitter clinical testing

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