Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000170935 | SCV000223494 | benign | not specified | 2014-06-19 | 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. |
Eurofins Ntd Llc |
RCV000170935 | SCV000232680 | benign | not specified | 2015-06-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001079992 | SCV000262090 | benign | Brugada syndrome 8 | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000619411 | SCV000735664 | benign | Cardiovascular phenotype | 2015-09-28 | 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. |
Athena Diagnostics | RCV000204870 | SCV001144129 | benign | not provided | 2018-11-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000204870 | SCV004562157 | benign | not provided | 2024-10-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000170935 | SCV005202371 | benign | not specified | 2024-07-28 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000204870 | SCV005295408 | benign | not provided | criteria provided, single submitter | not provided | ||
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000170935 | SCV006067918 | benign | not specified | 2025-04-09 | criteria provided, single submitter | clinical testing |