Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231920 | SCV000284207 | likely benign | Hypertrophic cardiomyopathy | 2023-08-22 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001171145 | SCV001333829 | benign | Cardiomyopathy | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001171145 | SCV001350895 | likely benign | Cardiomyopathy | 2019-07-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001534222 | SCV001751127 | likely benign | not provided | 2020-12-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298289 | SCV003989426 | likely benign | Cardiovascular phenotype | 2023-05-22 | 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. |