Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000443465 | SCV000531711 | likely benign | not specified | 2016-09-07 | 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. |
Color Diagnostics, |
RCV001188683 | SCV001355809 | likely benign | Cardiomyopathy | 2019-11-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002063459 | SCV002386089 | likely benign | Hypertrophic cardiomyopathy | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411387 | SCV002670031 | likely benign | Cardiovascular phenotype | 2020-03-11 | 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. |
Fulgent Genetics, |
RCV002488954 | SCV002803652 | likely benign | Hypertrophic cardiomyopathy 3; Dilated cardiomyopathy 1Y | 2021-08-09 | criteria provided, single submitter | clinical testing |