Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197634 | SCV000249974 | uncertain significance | not provided | 2022-07-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22696272) |
Invitae | RCV002229471 | SCV001007753 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277499 | SCV002565822 | uncertain significance | Ehlers-Danlos syndrome | 2021-11-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433875 | SCV002745826 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-12-20 | 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. |