Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000230241 | SCV000290274 | benign | Adams-Oliver syndrome 5 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000121684 | SCV000333221 | benign | not specified | 2015-08-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000121684 | SCV000527984 | benign | not specified | 2016-10-12 | 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 | RCV002312813 | SCV000738330 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-02-11 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Genome- |
RCV000230241 | SCV002554431 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269859 | SCV002554432 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505066 | SCV002806408 | benign | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003114267 | SCV003800246 | benign | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000121684 | SCV004029571 | likely benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV002312813 | SCV004239530 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2022-11-07 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121684 | SCV000085882 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Laboratory of Diagnostic Genome Analysis, |
RCV000121684 | SCV001799686 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000121684 | SCV001809279 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000121684 | SCV001926993 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000121684 | SCV001958687 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000121684 | SCV002038489 | benign | not specified | no assertion criteria provided | clinical testing | ||
Dept. |
RCV002284189 | SCV002573650 | pathogenic | Myeloproliferative neoplasm, unclassifiable | 2022-08-25 | flagged submission | clinical testing |