Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000226123 | SCV000289552 | benign | Brugada syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000430868 | SCV000519836 | benign | not specified | 2016-10-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002321881 | SCV002608996 | benign | Cardiovascular phenotype | 2018-12-03 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000430868 | SCV003928300 | likely benign | not specified | 2023-04-21 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004708114 | SCV005238253 | benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV000430868 | SCV001924779 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000430868 | SCV001952115 | benign | not specified | no assertion criteria provided | clinical testing |