Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088972 | SCV000290270 | likely benign | Adams-Oliver syndrome 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001798740 | SCV000319648 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2020-06-08 | 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. |
Gene |
RCV000484160 | SCV000569748 | likely benign | not provided | 2023-06-08 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Mayo Clinic Laboratories, |
RCV000484160 | SCV001714335 | uncertain significance | not provided | 2021-06-18 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798740 | SCV002043517 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000484160 | SCV001798281 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000484160 | SCV001952841 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000484160 | SCV001964376 | uncertain significance | not provided | no assertion criteria provided | clinical testing |