ClinVar Miner

Submissions for variant NM_203473.3(PORCN):c.838_839delinsCCCCCAG (p.Thr280fs) (rs1556974808)

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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 RCV000664205 SCV000678469 uncertain significance Focal dermal hypoplasia 2016-09-06 no assertion criteria provided clinical testing In a 28-years-old French female with focal dermal hypoplasia manifesting as Blaschko-linear atrophic red skin lesions, nail dystrophy, fragility of dental enamel and asymmetric dysplasia of concha of the right ear, we identified the indel variant c.838_839delACinsCCCCCAG p.(Thr280Profs*8) in PORCN in a mosaic state.

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