ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2633C>G (p.Ala878Gly)

gnomAD frequency: 0.00006  dbSNP: rs183167499
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665113 SCV000789179 uncertain significance Xeroderma pigmentosum, group C 2017-01-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257447 SCV002537508 uncertain significance Xeroderma pigmentosum 2021-12-13 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV000665113 SCV002814941 uncertain significance Xeroderma pigmentosum, group C 2021-07-11 criteria provided, single submitter clinical testing
ITMI RCV000122332 SCV000086562 not provided not specified 2013-09-19 no assertion provided reference population

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