Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001520105 | SCV001729122 | benign | Methylmalonic acidemia with homocystinuria, type cblX | 2021-09-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002528905 | SCV003680195 | likely benign | Inborn genetic diseases | 2022-06-24 | 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. |