Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000664064 | SCV000787497 | likely pathogenic | Decreased circulating antibody level | 2018-04-16 | criteria provided, single submitter | curation | This variant is interpreted as a Likely Pathogenic, for Hypogammaglobulinemia, Autosomal Dominant inheritance. 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-Moderate => PP1 upgraded in strength to Moderate (PMID:28782633). PS3-Moderate => PS3 downgraded in strength to Moderate (PMID:28782633). |
OMIM | RCV003482295 | SCV004231739 | pathogenic | Immunodeficiency, common variable, 15 | 2024-01-12 | no assertion criteria provided | literature only |