ClinVar Miner

Submissions for variant NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser) (rs199473704)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023611 SCV000044902 pathogenic Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2012-03-09 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059642 SCV000091212 not provided not provided no assertion provided not provided
Lab of Dermatology,Peking University First Hospital RCV000059642 SCV000109656 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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