Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000313125 | SCV000339458 | benign | not specified | 2016-02-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000313125 | SCV000519072 | benign | not specified | 2016-09-22 | 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 | RCV000618641 | SCV000738279 | benign | Cardiovascular phenotype | 2014-12-30 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Diagnostic Laboratory, |
RCV000607860 | SCV000734675 | benign | Aortic valve disorder | no assertion criteria provided | clinical testing |