Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035755 | SCV000059406 | likely benign | not specified | 2010-08-13 | criteria provided, single submitter | clinical testing | This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction. Therefore, it is unlikely that this variant is disease-causing. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170505 | SCV001333088 | likely benign | Cardiomyopathy | 2020-07-21 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001170505 | SCV001349208 | likely benign | Cardiomyopathy | 2019-05-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001395253 | SCV001596956 | likely benign | Hypertrophic cardiomyopathy | 2022-07-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408506 | SCV002721536 | likely benign | Cardiovascular phenotype | 2022-10-23 | 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. |