Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720034 | SCV000517401 | likely benign | not provided | 2020-02-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000634654 | SCV000755988 | benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002278669 | SCV002565809 | benign | Ehlers-Danlos syndrome | 2020-04-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411314 | SCV002723191 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-05-20 | 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. |