Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206483 | SCV000261526 | benign | Adams-Oliver syndrome 5 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000431633 | SCV000533353 | benign | not specified | 2017-12-20 | 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 | RCV000769593 | SCV000738384 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769593 | SCV000900990 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-03-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000206483 | SCV002554313 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270016 | SCV002554314 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001579878 | SCV002585103 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | NOTCH1: BP4, BP7, BS1 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000431633 | SCV004029524 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001579878 | SCV004563036 | benign | not provided | 2023-03-14 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001579878 | SCV001808825 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000431633 | SCV001918985 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001579878 | SCV001966922 | likely benign | not provided | no assertion criteria provided | clinical testing |