Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000980479 | SCV001128433 | likely benign | Glycogen storage disease, type II | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002454223 | SCV002737517 | likely benign | Cardiovascular phenotype | 2020-08-30 | 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. |
Ce |
RCV003424515 | SCV004146278 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | GAA: BP4, BP7 |