ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)

gnomAD frequency: 0.00018  dbSNP: rs143347563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989533 SCV001139953 likely benign Xeroderma pigmentosum, group F 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001854624 SCV002196498 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2023-12-01 criteria provided, single submitter clinical testing
ITMI RCV000120830 SCV000084995 not provided not specified 2013-09-19 no assertion provided reference population

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