Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000964788 | SCV001112029 | likely benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002320177 | SCV002628052 | likely benign | Cardiovascular phenotype | 2019-05-21 | 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. |