Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194546 | SCV000247440 | uncertain significance | not specified | 2015-03-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000252988 | SCV000319146 | likely benign | Cardiovascular phenotype | 2013-11-20 | 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. |
Athena Diagnostics Inc | RCV000991334 | SCV000613360 | benign | not provided | 2019-03-20 | criteria provided, single submitter | clinical testing |