Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470345 | SCV000543778 | likely benign | Aortic valve disease 2 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002393091 | SCV002675258 | likely benign | Inborn genetic diseases | 2019-12-30 | 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. |
Genome Diagnostics Laboratory, |
RCV001702493 | SCV001927588 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001702493 | SCV001965183 | likely benign | not provided | no assertion criteria provided | clinical testing |