Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV001175173 | SCV001571398 | likely pathogenic | Neurodevelopmental, jaw, eye, and digital syndrome | 2021-04-13 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Neurodevelopmental, jaw, eye, and digital 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); Assumed de novo, but no confirmation of paternity and maternity (PM6); 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 | RCV001175173 | SCV001338772 | pathogenic | Neurodevelopmental, jaw, eye, and digital syndrome | 2020-06-16 | no assertion criteria provided | literature only |