Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000515527 | SCV000590957 | likely pathogenic | Intellectual disability, autosomal dominant 24 | 2017-08-17 | criteria provided, single submitter | clinical testing | This variant has been observed once in our laboratory de novo in a 3-year-old female with central hypotonia, global delays, ataxia, seizure disorder, autism spectrum disorder. A de novo DYNC1H1 missense variant was also present. |
OMIM | RCV000515527 | SCV001334282 | pathogenic | Intellectual disability, autosomal dominant 24 | 2020-06-01 | no assertion criteria provided | literature only |