Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000268202 | SCV000338633 | benign | not specified | 2016-02-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000268202 | SCV000524355 | benign | not specified | 2016-09-30 | 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. |
Invitae | RCV000467212 | SCV000559927 | benign | Adams-Oliver syndrome 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000769575 | SCV000738353 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-04-02 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV000769575 | SCV000900972 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-04-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000467212 | SCV002553784 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270206 | SCV002553785 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000268202 | SCV003933956 | benign | not specified | 2023-05-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736687 | SCV004563825 | benign | not provided | 2023-11-08 | criteria provided, single submitter | clinical testing |