Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035865 | SCV000059516 | likely benign | not specified | 2009-02-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001183472 | SCV001349212 | likely benign | Cardiomyopathy | 2019-05-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001473786 | SCV001677946 | likely benign | Hypertrophic cardiomyopathy | 2023-08-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345276 | SCV002622187 | likely benign | Cardiovascular phenotype | 2020-11-18 | 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. |