Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002526070 | SCV000637587 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-09-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001188959 | SCV001356150 | likely benign | Cardiomyopathy | 2019-03-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367836 | SCV002661161 | likely benign | Cardiovascular phenotype | 2020-03-06 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330765 | SCV004038021 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925637 | SCV004744017 | likely benign | RYR2-related condition | 2019-09-17 | 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). |