Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703583 | SCV000832489 | benign | Adams-Oliver syndrome 5 | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572040 | SCV001796617 | likely benign | not provided | 2018-11-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004026634 | SCV005027347 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2023-10-23 | 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. |