Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698462 | SCV000727698 | likely benign | not provided | 2019-05-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317367 | SCV000851602 | likely benign | Inborn genetic diseases | 2017-03-20 | 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. |
Clinical Genetics, |
RCV001698462 | SCV001919129 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001698462 | SCV001972434 | likely benign | not provided | no assertion criteria provided | clinical testing |