Total submissions: 20
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000211645 | SCV000295599 | likely benign | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Genomic Diagnostic Laboratory, |
RCV000211645 | SCV000296925 | uncertain significance | Familial hypercholesterolemia 1 | 2015-09-02 | criteria provided, single submitter | clinical testing | |
Cardiovascular Research Group, |
RCV000211645 | SCV000322971 | likely benign | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | 1/125 non-FH individuals |
Cardiovascular Biomarker Research Laboratory, |
RCV000211645 | SCV000323103 | uncertain significance | Familial hypercholesterolemia 1 | 2016-08-31 | criteria provided, single submitter | research | MAF =<0.3%, LDL-C >=160 mg/dL |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000211645 | SCV000503394 | benign | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 15 |
Laboratory for Molecular Medicine, |
RCV000455738 | SCV000539506 | likely benign | not specified | 2017-02-03 | 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: This is an intronic variant in LDLR. It is classified as DM? in HGMD. It has been reported in 2 probands with hypercholesterolemia but in both co-occurred with another variant. It is classified in ClinVar with 1 star as Benign by Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital, Likely benign by British Heart Foundation and Instituto Nacional de Saude Doutor Ricardo Jorge (in 1/125 non-FH individuals), and as VUS by CHOP. It has a max MAF in ExAC of 0.38% (44 Latino alleles) and in gnomAD of 0.4% (41 Ashkenazi and 122 Latino alleles). |
Invitae | RCV000771093 | SCV000556772 | benign | Familial hypercholesterolemia | 2019-12-31 | criteria provided, single submitter | clinical testing | |
U4M - |
RCV000211645 | SCV000583867 | likely benign | Familial hypercholesterolemia 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000211645 | SCV000588603 | likely benign | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Fundacion Hipercolesterolemia Familiar | RCV000211645 | SCV000607628 | likely benign | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Color | RCV000211645 | SCV000689765 | likely benign | Familial hypercholesterolemia 1 | 2017-06-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000455738 | SCV000730511 | benign | not specified | 2017-12-04 | 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. |
Iberoamerican FH Network | RCV000211645 | SCV000748152 | likely benign | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Robarts Research Institute, |
RCV000211645 | SCV000782923 | likely benign | Familial hypercholesterolemia 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759075 | SCV000888162 | benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Color | RCV000771093 | SCV000902688 | benign | Familial hypercholesterolemia | 2018-06-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000211645 | SCV001281863 | uncertain significance | Familial hypercholesterolemia 1 | 2018-08-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Cardiovascular Genetics Laboratory, |
RCV000211645 | SCV000268631 | benign | Familial hypercholesterolemia 1 | 2015-04-02 | no assertion criteria provided | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000211645 | SCV000606493 | benign | Familial hypercholesterolemia 1 | no assertion criteria provided | research | ||
Diagnostic Laboratory, |
RCV000211645 | SCV000733826 | likely benign | Familial hypercholesterolemia 1 | no assertion criteria provided | clinical testing |