Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721133 | SCV000233379 | likely benign | not provided | 2020-04-17 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV001190473 | SCV000738538 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-03-12 | 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. |
Labcorp Genetics |
RCV000634727 | SCV000756067 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001190473 | SCV001357973 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-05-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001721133 | SCV004702096 | uncertain significance | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | COL3A1: PM2 |