Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698283 | SCV000532152 | likely benign | not provided | 2020-12-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000463751 | SCV000559952 | likely benign | Adams-Oliver syndrome 5 | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000463751 | SCV002554267 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270432 | SCV002554268 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002348224 | SCV002647619 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-11-03 | 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. |
Ce |
RCV001698283 | SCV004162001 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | NOTCH1: BP4, BP7 |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001698283 | SCV001956373 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001698283 | SCV001976284 | likely benign | not provided | no assertion criteria provided | clinical testing |