Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000862602 | SCV000719745 | likely benign | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001088637 | SCV001003127 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-29 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001187318 | SCV001354088 | likely benign | Cardiomyopathy | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002448869 | SCV002733034 | 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: seen in unaffected individuals, 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, |
RCV002491256 | SCV002797869 | likely benign | Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB | 2021-08-18 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002517 | SCV004821783 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000608537 | SCV001923022 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000862602 | SCV001928321 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV003962768 | SCV004777900 | likely benign | DSG2-related disorder | 2021-01-29 | no assertion criteria provided | 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). |