Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000030137 | SCV000052792 | likely benign | Hypercholesterolemia, familial, 1 | 2011-08-18 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Cardiovascular Biomarker Research Laboratory, |
RCV000030137 | SCV000266317 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-08-31 | criteria provided, single submitter | research | MAF =<0.3%, LDL-C >=160 mg/dL |
LDLR- |
RCV000030137 | SCV000294752 | benign | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Laboratory for Molecular Medicine, |
RCV000454741 | SCV000539507 | likely benign | not specified | 2016-03-31 | 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: Silent, not in splice consensus; ExAC: 0.2% (11/6614) Finnish; ClinVar: 1 LB |
Fundacion Hipercolesterolemia Familiar | RCV000030137 | SCV000607465 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Gene |
RCV001711090 | SCV000730504 | likely benign | not provided | 2019-10-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17347910, 26332594, 20145306, 15241806) |
Invitae | RCV000775042 | SCV000752450 | benign | Familial hypercholesterolemia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000775042 | SCV000909139 | likely benign | Familial hypercholesterolemia | 2017-08-25 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000030137 | SCV001140981 | benign | Hypercholesterolemia, familial, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000030137 | SCV001282939 | uncertain significance | Hypercholesterolemia, familial, 1 | 2019-02-11 | 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. |
Ambry Genetics | RCV002336095 | SCV002642919 | likely benign | Cardiovascular phenotype | 2019-03-07 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Ce |
RCV001711090 | SCV004011016 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | LDLR: BP4, BP7 |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000030137 | SCV000606139 | benign | Hypercholesterolemia, familial, 1 | no assertion criteria provided | research | ||
Natera, |
RCV000775042 | SCV002086368 | likely benign | Familial hypercholesterolemia | 2020-02-20 | no assertion criteria provided | clinical testing |