ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.718C>T (p.Arg240Cys)

gnomAD frequency: 0.00002  dbSNP: rs552222088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666016 SCV000790247 uncertain significance Xeroderma pigmentosum, group C 2017-03-08 criteria provided, single submitter clinical testing
ITMI RCV000122337 SCV000086567 not provided not specified 2013-09-19 no assertion provided reference population

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