ClinVar Miner

Submissions for variant NM_203475.3(PORCN):c.565T>C (p.Trp189Arg)

dbSNP: rs1057519006
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics, CHU RENNES RCV000414798 SCV000493103 likely pathogenic Focal dermal hypoplasia no assertion criteria provided clinical testing

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