Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815515 | SCV000955974 | likely benign | Glycogen storage disease, type II | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372301 | SCV002687474 | likely benign | Cardiovascular phenotype | 2020-09-30 | 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. |
Natera, |
RCV000815515 | SCV001453600 | uncertain significance | Glycogen storage disease, type II | 2020-09-16 | no assertion criteria provided | clinical testing |