Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000684762 | SCV000930066 | likely pathogenic | Severe combined immunodeficiency due to CARMIL2 deficiency | 2019-01-08 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Immunodeficiency 58, 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. PP1 : Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:29479355). PS3-Moderate : PS3 downgraded to moderate (PMID:29479355). |
OMIM | RCV000684762 | SCV000812279 | pathogenic | Severe combined immunodeficiency due to CARMIL2 deficiency | 2018-09-28 | no assertion criteria provided | literature only |