ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter)

dbSNP: rs767569346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170432 SCV000222869 pathogenic Xeroderma pigmentosum, group C 2010-03-01 criteria provided, single submitter clinical testing
Counsyl RCV000170432 SCV000793622 pathogenic Xeroderma pigmentosum, group C 2017-08-25 criteria provided, single submitter clinical testing

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