Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000863146 | SCV001003751 | likely benign | Hypertrophic cardiomyopathy | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001186029 | SCV001352357 | likely benign | Cardiomyopathy | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001707855 | SCV001936291 | likely benign | not provided | 2019-05-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345954 | SCV002623499 | likely benign | Cardiovascular phenotype | 2020-03-20 | 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. |