Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035093 | SCV000058733 | likely benign | not specified | 2010-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001492088 | SCV001696693 | likely benign | 3-Methylglutaconic aciduria type 2 | 2023-04-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298042 | SCV003994194 | likely benign | Cardiovascular phenotype | 2023-04-14 | 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. |