Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001698407 | SCV000726588 | likely benign | not provided | 2021-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001487171 | SCV001691655 | likely benign | Adams-Oliver syndrome 5 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001487171 | SCV002554409 | likely benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270841 | SCV002554410 | likely benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331072 | SCV002629154 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-09-04 | 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. |