Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037301 | SCV000060958 | likely benign | not specified | 2018-04-10 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Gene |
RCV000727377 | SCV000528544 | likely benign | not provided | 2019-01-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001086554 | SCV000561377 | benign | Arrhythmogenic right ventricular dysplasia 10 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727377 | SCV000708000 | uncertain significance | not provided | 2017-05-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000621087 | SCV000737732 | likely benign | Cardiovascular phenotype | 2016-09-26 | 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. |
Color Diagnostics, |
RCV000777813 | SCV000913808 | likely benign | Cardiomyopathy | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037301 | SCV004038084 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000727377 | SCV004562149 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing |