Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV001255193 | SCV001571392 | likely pathogenic | Intellectual developmental disorder with seizures and language delay | 2021-04-13 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Intellectual developmental disorder with seizures and language delay, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); De novo (paternity and maternity confirmed) (PS2); Prevalence in affected individuals statistically increased over controls (PS4 downgraded to supporting); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease (PP2). |
OMIM | RCV001255193 | SCV001431547 | pathogenic | Intellectual developmental disorder with seizures and language delay | 2020-09-03 | no assertion criteria provided | literature only |