Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001280479 | SCV001608037 | likely benign | Glycogen storage disease, type II | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411926 | SCV002722413 | likely benign | Cardiovascular phenotype | 2021-04-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Natera, |
RCV001280479 | SCV001467661 | uncertain significance | Glycogen storage disease, type II | 2020-08-13 | no assertion criteria provided | clinical testing |