Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698190 | SCV000531655 | likely benign | not provided | 2020-09-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000885849 | SCV001029322 | benign | Methylmalonic acidemia with homocystinuria, type cblX | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002522497 | SCV003697504 | likely benign | Inborn genetic diseases | 2022-10-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |