Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124514 | SCV000167947 | benign | not specified | 2014-02-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ambry Genetics | RCV002311014 | SCV000320022 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-08-14 | 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. |
Invitae | RCV002228282 | SCV000558994 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001532435 | SCV001747999 | likely benign | not provided | 2021-03-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277237 | SCV002565835 | likely benign | Ehlers-Danlos syndrome | 2021-11-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000124514 | SCV004039259 | benign | not specified | 2023-08-24 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003758689 | SCV004564795 | likely benign | Ehlers-Danlos syndrome, classic type, 2 | 2023-06-19 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000124514 | SCV001807769 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001532435 | SCV001932131 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001532435 | SCV001952922 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001532435 | SCV001969862 | likely benign | not provided | no assertion criteria provided | clinical testing |