Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000639882 | SCV000761465 | benign | Myofibrillar myopathy 4 | 2023-08-30 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000770138 | SCV000901564 | uncertain significance | Cardiomyopathy | 2017-09-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448997 | SCV002753731 | likely benign | Cardiovascular phenotype | 2022-07-06 | 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. |