Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001582598 | SCV001811412 | uncertain significance | not provided | 2019-12-04 | criteria provided, single submitter | clinical testing | Reported in association with low plasma triglyceride levels (Liu et al., 2000; Crosby et al., 2014; Jorgensen et al., 2014; Bochem et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Published functional studies demonstrate a damaging effect on protein function (Sundaram et al., 2010); This variant is associated with the following publications: (PMID: 11060345, 20097930, 28825717, 24941082, 29237685, 32041611, 24941081, 31589614, 23701270) |
Invitae | RCV001582598 | SCV002402353 | benign | not provided | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371975 | SCV002690663 | benign | Cardiovascular phenotype | 2019-08-28 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003330497 | SCV004037914 | likely benign | not specified | 2023-08-01 | criteria provided, single submitter | clinical testing | |
Clin |
RCV000128450 | SCV000172132 | protective | Coronary heart disease | 2014-06-18 | no assertion criteria provided | literature only | |
OMIM | RCV000148019 | SCV000195519 | pathogenic | Apolipoprotein c-III deficiency | 2014-07-03 | no assertion criteria provided | literature only |