Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035485 | SCV000059134 | likely benign | not specified | 2010-12-28 | 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. |
Color Diagnostics, |
RCV001188107 | SCV001355079 | likely benign | Cardiomyopathy | 2019-02-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001434025 | SCV001636825 | likely benign | Hypertrophic cardiomyopathy | 2023-05-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444464 | SCV002733504 | likely benign | Cardiovascular phenotype | 2022-10-27 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000035485 | SCV003934389 | likely benign | not specified | 2023-05-22 | criteria provided, single submitter | clinical testing |