Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000465566 | SCV000717724 | likely benign | not provided | 2021-09-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001183504 | SCV001349253 | likely benign | Cardiomyopathy | 2019-09-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001481758 | SCV001686108 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2021-10-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429572 | SCV002678314 | likely benign | Cardiovascular phenotype | 2018-06-25 | 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. |