ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.2537G>C (p.Gly846Ala)

gnomAD frequency: 0.00001  dbSNP: rs55779831
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671442 SCV000796418 uncertain significance Xeroderma pigmentosum, group C 2017-12-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000671442 SCV002783784 uncertain significance Xeroderma pigmentosum, group C 2022-02-04 criteria provided, single submitter clinical testing
ITMI RCV000122329 SCV000086559 not provided not specified 2013-09-19 no assertion provided reference population

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