Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001181834 | SCV001347073 | likely benign | Cardiomyopathy | 2019-07-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000865775 | SCV001777062 | likely benign | not provided | 2020-02-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002062264 | SCV002446310 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003362990 | SCV004057583 | likely benign | Cardiovascular phenotype | 2023-06-29 | 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. |