Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000864361 | SCV001005151 | likely benign | Hypertrophic cardiomyopathy | 2023-09-05 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001182548 | SCV001348021 | likely benign | Cardiomyopathy | 2018-11-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001707856 | SCV001934639 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442805 | SCV002753525 | likely benign | Cardiovascular phenotype | 2020-04-28 | 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. |