Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000842172 | SCV000984170 | likely benign | not provided | 2018-04-24 | 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. |
Invitae | RCV001494694 | SCV001699356 | likely benign | Adams-Oliver syndrome 5 | 2023-10-20 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001494694 | SCV002554903 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002271073 | SCV002554904 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002434044 | SCV002746566 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-08-08 | 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, |
RCV000842172 | SCV002034289 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000842172 | SCV002038354 | likely benign | not provided | no assertion criteria provided | clinical testing |