Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000465269 | SCV000716224 | likely benign | not provided | 2020-11-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313215 | SCV000739458 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-12-07 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Invitae | RCV001417865 | SCV001620071 | likely benign | Adams-Oliver syndrome 5 | 2023-04-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001417865 | SCV002554424 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270522 | SCV002554425 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004526682 | SCV005039879 | likely benign | not specified | 2024-03-17 | criteria provided, single submitter | clinical testing |