Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842560 | SCV000984584 | likely benign | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170167 | SCV001332717 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-11-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002068627 | SCV002406099 | benign | Adams-Oliver syndrome 5 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002068627 | SCV002555023 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271079 | SCV002555024 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001170167 | SCV002724159 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-05-04 | 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. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000842560 | SCV001959242 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000842560 | SCV001966932 | likely benign | not provided | no assertion criteria provided | clinical testing |