Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593829 | SCV000703683 | uncertain significance | not provided | 2016-12-15 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001476799 | SCV001681013 | likely benign | Ehlers-Danlos syndrome, type 4 | 2021-12-17 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001524472 | SCV001734333 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-08-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000593829 | SCV001850198 | likely benign | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV001476799 | SCV004831334 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-06-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001524472 | SCV005103913 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-06-07 | 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. |