Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780356 | SCV000917548 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001438634 | SCV001641513 | likely benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2020-08-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000941680 | SCV001757755 | likely benign | not provided | 2021-01-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002325483 | SCV002608754 | likely benign | Cardiovascular phenotype | 2020-07-22 | 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, |
RCV001438634 | SCV002810660 | likely benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2021-08-20 | criteria provided, single submitter | clinical testing |