ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.1292_1293del (p.Lys431fs)

dbSNP: rs794729654
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000000280 SCV000791532 pathogenic Xeroderma pigmentosum, group C 2017-05-17 criteria provided, single submitter clinical testing
OMIM RCV000000280 SCV000020424 pathogenic Xeroderma pigmentosum, group C 1993-12-01 no assertion criteria provided literature only

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