Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224609 | SCV000280710 | likely benign | not provided | 2016-02-11 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV001837764 | SCV000554821 | benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Robarts Research Institute, |
RCV000582471 | SCV000782869 | likely benign | Hypercholesterolemia, familial, 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000776106 | SCV000910950 | benign | Familial hypercholesterolemia | 2018-06-28 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000224609 | SCV001469945 | benign | not provided | 2020-06-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000224609 | SCV001916770 | benign | not provided | 2020-10-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000224609 | SCV002544005 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | APOB: BP4 |
Ambry Genetics | RCV002354625 | SCV002657700 | benign | Cardiovascular phenotype | 2017-02-07 | 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. |
ARUP Laboratories, |
RCV000224609 | SCV004564694 | likely benign | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing |