Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000256172 | SCV000321506 | likely pathogenic | not provided | 2022-03-04 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 7679206, 17307885, 14514918) |
OMIM | RCV000011914 | SCV000032147 | pathogenic | Hyper-IgM syndrome type 1 | 1995-04-01 | no assertion criteria provided | literature only |