Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000515517 | SCV000590958 | likely pathogenic | Intellectual disability, autosomal dominant 24 | 2017-08-17 | criteria provided, single submitter | research | This variant was identified in a research cohort, de novo in a 4-year-old male with global delays, developmental regression, seizures with normal EEG, hypotonia, slight tremor, sleeping problems, repetitive behavior, aggressive behavior, self-injurious behavior, pica, mild dysmorphisms, pes planus, mild 2-3 syndactyly, frequent otitis media. This patient has been previously reported (PMID 28213671). |
OMIM | RCV000515517 | SCV001334281 | pathogenic | Intellectual disability, autosomal dominant 24 | 2020-06-01 | no assertion criteria provided | literature only |