Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000828320 | SCV000970005 | likely benign | not provided | 2020-07-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001474989 | SCV001679169 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2022-05-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442774 | SCV002682992 | likely benign | Cardiovascular phenotype | 2021-02-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |