Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623479 | SCV000742154 | likely pathogenic | Inborn genetic diseases | 2017-02-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003222064 | SCV003918633 | pathogenic | not provided | 2022-10-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25662172, 31628766, 31021519) |