ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.1381G>T (p.Glu461Ter)

dbSNP: rs754197041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667716 SCV000792211 likely pathogenic Xeroderma pigmentosum, group C 2017-06-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667716 SCV004206991 likely pathogenic Xeroderma pigmentosum, group C 2023-06-24 criteria provided, single submitter clinical testing

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