Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000828006 | SCV000969680 | likely benign | not provided | 2019-06-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181788 | SCV001347014 | likely benign | Cardiomyopathy | 2018-11-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001464380 | SCV001668347 | likely benign | Hypertrophic cardiomyopathy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336733 | SCV002636048 | likely benign | Cardiovascular phenotype | 2019-07-23 | 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. |