Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001402712 | SCV001604563 | likely benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2021-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372405 | SCV002667224 | likely benign | Cardiovascular phenotype | 2019-12-10 | 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. |
Prevention |
RCV003918348 | SCV004730771 | likely benign | JUP-related condition | 2019-05-03 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |