Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774547 | SCV000908250 | likely benign | Cardiomyopathy | 2018-10-22 | criteria provided, single submitter | clinical testing | |
Genetics and Genomics Program, |
RCV001293046 | SCV001434026 | uncertain significance | Hypertrophic cardiomyopathy | criteria provided, single submitter | research | ||
Invitae | RCV002534149 | SCV001726773 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343630 | SCV002653304 | likely benign | Cardiovascular phenotype | 2021-01-22 | 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 |
RCV003938155 | SCV004752119 | likely benign | RYR2-related condition | 2019-06-26 | 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). |