Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227593 | SCV000290239 | benign | Adams-Oliver syndrome 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000596170 | SCV000709222 | benign | not specified | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705279 | SCV000715448 | likely benign | not provided | 2021-09-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313946 | SCV000739369 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-03-23 | 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 |
RCV001705279 | SCV001962596 | likely benign | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000227593 | SCV002555086 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270030 | SCV002555088 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000596170 | SCV004121920 | benign | not specified | 2023-10-19 | criteria provided, single submitter | clinical testing |