Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000244327 | SCV000318600 | likely benign | Cardiovascular phenotype | 2013-04-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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 |
RCV000443736 | SCV000518472 | likely benign | not specified | 2015-09-17 | 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 |
RCV000726505 | SCV000701510 | uncertain significance | not provided | 2016-09-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000726505 | SCV001880257 | uncertain significance | not provided | 2020-09-24 | criteria provided, single submitter | clinical testing |