Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000723358 | SCV000930059 | likely pathogenic | Inflammatory bowel disease, immunodeficiency, and encephalopathy | 2019-02-27 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Inflammatory bowel disease, immunodeficiency, and encephalopathy, autosomal recessive. 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. PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3-Moderate : PS3 downgraded in strength to Moderate (PMID:29483653). PP1 : Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:29483653). |
Klein lab, |
RCV000584758 | SCV000622112 | pathogenic | Encephalopathy; Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | 2017-01-01 | no assertion criteria provided | research | Variant is associated with primary immunodeficiency, inflammatory bowel disease and encephalopathy. |
OMIM | RCV000723358 | SCV000854758 | pathogenic | Inflammatory bowel disease, immunodeficiency, and encephalopathy | 2018-12-04 | no assertion criteria provided | literature only |