Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000170934 | SCV000223493 | benign | not specified | 2014-09-02 | 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 |
RCV000170934 | SCV000232678 | benign | not specified | 2015-03-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081519 | SCV000554503 | benign | Brugada syndrome 8 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620536 | SCV000735407 | benign | Cardiovascular phenotype | 2015-09-17 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Athena Diagnostics Inc | RCV000711891 | SCV000842302 | benign | not provided | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000170934 | SCV001917863 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000170934 | SCV001931770 | benign | not specified | no assertion criteria provided | clinical testing |