Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | RCV001078155 | SCV001426721 | likely pathogenic | Intellectual disability, autosomal dominant 9 | 2020-06-15 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for NESCAV syndrome, 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); 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); Assumed de novo, but no confirmation of paternity and maternity (PM6); Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before (PM5). |
| OMIM | RCV001078155 | SCV001244206 | pathogenic | Intellectual disability, autosomal dominant 9 | 2020-04-16 | no assertion criteria provided | literature only |