Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000190721 | SCV000244162 | likely pathogenic | Inborn genetic diseases | 2014-11-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003327378 | SCV004034842 | pathogenic | not provided | 2023-03-01 | 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: 27577505, 33258288, 35945798, 33868146, 26795593, 32802951) |