ClinVar Miner

Submissions for variant NM_203475.3(PORCN):c.782T>C (p.Leu261Pro)

dbSNP: rs2147130188
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001726710 SCV001961033 likely pathogenic Focal dermal hypoplasia 2021-09-07 criteria provided, single submitter clinical testing

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