Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics, |
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. |