Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001477725 | SCV001681972 | likely benign | Glycogen storage disease, type II | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001726566 | SCV001961732 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | GAA: BP4, BP7 |
Ambry Genetics | RCV002368460 | SCV002664717 | likely benign | Cardiovascular phenotype | 2022-10-02 | 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. |