Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227779 | SCV000290276 | benign | Adams-Oliver syndrome 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000770625 | SCV000319658 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2015-05-21 | 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. |
Center for Pediatric Genomic Medicine, |
RCV000424103 | SCV000511600 | benign | not provided | 2016-10-13 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000121689 | SCV000539940 | benign | not specified | 2016-04-25 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
Gene |
RCV000121689 | SCV000730373 | benign | not specified | 2017-01-18 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000770625 | SCV000902076 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-09-12 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000227779 | SCV001137962 | benign | Adams-Oliver syndrome 5 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000227779 | SCV002554371 | benign | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002269860 | SCV002554373 | benign | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000121689 | SCV004029510 | likely benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000424103 | SCV004564053 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000121689 | SCV000085887 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |