Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035389 | SCV000059037 | 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. |
Invitae | RCV000460213 | SCV000546427 | likely benign | Hypertrophic cardiomyopathy | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001180859 | SCV001345898 | likely benign | Cardiomyopathy | 2019-08-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002381290 | SCV002690418 | likely benign | Cardiovascular phenotype | 2019-04-19 | 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. |