Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556622 | SCV000626559 | likely benign | Glycogen storage disease, type II | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448616 | SCV002732268 | likely benign | Cardiovascular phenotype | 2022-04-21 | 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. |