Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV002260124 | SCV002540186 | likely pathogenic | Agammaglobulinemia 10, autosomal dominant | 2022-06-22 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Agammaglobulinemia 10, 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 without confirmation of paternity and maternity (PM6); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Well-established functional studies show a deleterious effect (PS3). |
Neil Romberg Laboratory, |
RCV001172538 | SCV001134083 | pathogenic | PU.1-mutated agammaglobulinemia | 2019-12-10 | no assertion criteria provided | research |