Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV000149480 | SCV000807299 | uncertain significance | Intellectual disability, autosomal dominant 9 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 7-year-old male with global delays, cerebellar atrophy, optic nerve pallor, mixed tone, epilepsy, ataxia, dysmorphisms, short stature, contractures |
| SIB Swiss Institute of Bioinformatics | RCV000149480 | SCV001426716 | 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); Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before (PM5); Assumed de novo, but no confirmation of paternity and maternity (PM6). |
| CHU Sainte- |
RCV000149480 | SCV000196125 | likely pathogenic | Intellectual disability, autosomal dominant 9 | 2014-01-01 | no assertion criteria provided | clinical testing |