Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000454787 | SCV000538322 | uncertain significance | not specified | 2016-03-28 | 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: 1 paper, no segs, ExAC: 0.2% (28/16492) South Asian chromosomes |
Eurofins Ntd Llc |
RCV000726680 | SCV000702087 | uncertain significance | not provided | 2016-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001837900 | SCV000777054 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Robarts Research Institute, |
RCV000660710 | SCV000782899 | uncertain significance | Hypercholesterolemia, familial, 1 | 2018-01-02 | criteria provided, single submitter | clinical testing |