Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126984 | SCV000170515 | benign | not specified | 2011-07-14 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000629051 | SCV000749963 | likely benign | Hypertrophic cardiomyopathy | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181349 | SCV001346475 | likely benign | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001181349 | SCV002042265 | likely benign | Cardiomyopathy | 2020-03-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002426687 | SCV002730139 | likely benign | Cardiovascular phenotype | 2019-10-03 | 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. |
All of Us Research Program, |
RCV001181349 | SCV004821622 | likely benign | Cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing |