Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000584741 | SCV000883150 | likely pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Likely Pathogenic, for Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, autosomal dominant. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PVS1 => Predicted nullvariant in a gene where LOF is a known mechanism of disease (https://www.ncbi.nlm.nih.gov/pubmed/29198724). |
OMIM | RCV001800810 | SCV000692449 | pathogenic | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | 2021-02-15 | no assertion criteria provided | literature only |