ClinVar Miner

Submissions for variant NM_203475.3(PORCN):c.1023+2T>A (rs1556975151)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics,University Clinic Freiburg RCV000664204 SCV000678468 pathogenic Focal dermal hypoplasia 2017-05-27 no assertion criteria provided clinical testing 19-years-old French female with focal dermal hypoplasia developed widespread hyperpigmented and slight hypoplastic lesions involving the legs in a Blaschko-linear pattern. No extra-cutaneous features were noticed. She presented the splice site mutation c.1008+2T>A p.Tyr311Trpfs*77 in PORCN in a mosaic state.

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