Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704463 | SCV000530494 | likely benign | not provided | 2021-03-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 16858239) |
Invitae | RCV000550418 | SCV000646919 | likely benign | Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769736 | SCV000901158 | likely benign | Cardiomyopathy | 2017-02-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000769736 | SCV001349554 | likely benign | Cardiomyopathy | 2019-04-20 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002265763 | SCV002548104 | likely benign | not specified | 2022-05-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411374 | SCV002676170 | likely benign | Cardiovascular phenotype | 2019-08-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Genome- |
RCV003449071 | SCV004180485 | likely benign | Dilated cardiomyopathy 1D | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449072 | SCV004180487 | likely benign | Cardiomyopathy, familial restrictive, 3 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449070 | SCV004180488 | likely benign | Hypertrophic cardiomyopathy 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV000769736 | SCV004823340 | likely benign | Cardiomyopathy | 2023-12-18 | criteria provided, single submitter | clinical testing |