Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000191101 | SCV000245501 | likely pathogenic | Wiedemann-Steiner syndrome | 2013-10-11 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 19-year-old female with hypertrophic cardiomyopathy, polyneuropathy, chorea, epilepsy, delayed puberty, PCOS, osteopenia, mild intellectual disability, hypertrichosis, Asperger syndrome, attention deficit, anxiety, strabismus, dysmorphisms |