Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000244009 | SCV000305459 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV000245967 | SCV000317401 | benign | Cardiovascular phenotype | 2015-06-19 | 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. |
Gene |
RCV000244009 | SCV000520280 | benign | not specified | 2016-09-28 | 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. |
Athena Diagnostics Inc | RCV000710356 | SCV000840559 | benign | not provided | 2017-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080095 | SCV001000049 | benign | Brugada syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing |