Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000182912 | SCV000235302 | benign | not specified | 2014-07-02 | 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 | RCV003654217 | SCV000637116 | benign | not provided | 2023-11-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001842886 | SCV001350812 | likely benign | Cardiac arrhythmia | 2018-12-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000182912 | SCV002511989 | benign | not specified | 2022-04-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002444734 | SCV002753538 | benign | Cardiovascular phenotype | 2021-12-01 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |