Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002408706 | SCV002721175 | likely benign | Cardiovascular phenotype | 2021-06-10 | 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, |
RCV002492607 | SCV002794288 | uncertain significance | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2021-08-01 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV000157252 | SCV000206982 | uncertain significance | Primary familial hypertrophic cardiomyopathy | 2014-11-04 | no assertion criteria provided | clinical testing |