Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
New York Genome Center | RCV001255020 | SCV001431110 | likely pathogenic | Autism; Focal-onset seizure; Intellectual disability | 2019-11-12 | no assertion criteria provided | clinical testing | This variant substitutes a completely conserved adenine for cytosine at the canonical splice acceptor site within intron 1/19. This variant is absent from gnomAD and ExAC suggesting it is not a common benign variant in the populations represented in these databases. To our current knowledge has not been reported in affected individuals in the literature, however other nonsense, frameshift, and canonical splice variants have been reported. This variant was identified de novo in an individual referred for clinical WGS testing in our laboratory. |
Service de Génétique Moléculaire, |
RCV001270389 | SCV001450671 | likely pathogenic | Intellectual disability, autosomal dominant 50 | 2020-04-20 | no assertion criteria provided | clinical testing |