Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000679967 | SCV000807401 | uncertain significance | Intellectual disability, autosomal dominant 13 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 13-year-old female with congenital arthrogryposis, cataracts, itellectual disability, abnormal tone, seizure, myopathy, dysmorphisms, brain atrophy, obesity, polycystic ovary syndrome, advanced bone age. A more mildly affected sister shared the mutation. |
Ce |
RCV000995249 | SCV001149330 | uncertain significance | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing |