Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001267513 | SCV001445694 | likely pathogenic | Inborn genetic diseases | 2019-08-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003156334 | SCV003845807 | pathogenic | not provided | 2022-09-21 | 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: 26125038, 21820098, 21376300, 29589274) |