Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000244104 | SCV000318846 | likely benign | Cardiovascular phenotype | 2013-07-30 | 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 |
RCV001589299 | SCV001823465 | likely benign | not provided | 2020-04-09 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001589299 | SCV003821720 | uncertain significance | not provided | 2021-08-05 | criteria provided, single submitter | clinical testing |