Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000178308 | SCV000230365 | benign | not specified | 2015-01-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000228554 | SCV000290305 | benign | Adams-Oliver syndrome 5 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002310743 | SCV000319488 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-04-16 | 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. |
Gene |
RCV000178308 | SCV000532976 | benign | not specified | 2016-10-14 | 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. |
Genome- |
RCV000228554 | SCV002555117 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269962 | SCV002555118 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492781 | SCV002805462 | benign | Aortic valve disease 1; Adams-Oliver syndrome 5 | 2021-07-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000178308 | SCV004029549 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003736622 | SCV004563023 | benign | not provided | 2023-03-14 | criteria provided, single submitter | clinical testing |