Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001491469 | SCV001696065 | likely benign | Glycogen storage disease, type II | 2023-11-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001575082 | SCV001801998 | likely benign | not provided | 2021-05-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002449295 | SCV002734988 | likely benign | Cardiovascular phenotype | 2020-10-23 | 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. |