ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1061-8T>C

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030123 SCV000052778 uncertain Familial hypercholesterolemia 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000030123 SCV000257699 likely benign Familial hypercholesterolemia 1 2015-06-17 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000030123 SCV000295183 benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000245346 SCV000304681 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000030123 SCV000322930 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 2/75 Portuguese normolipidemic individuals
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000030123 SCV000323106 likely benign Familial hypercholesterolemia 1 2016-08-31 criteria provided, single submitter research MAF =<0.3%
Robarts Research Institute,Western University RCV000030123 SCV000484782 benign Familial hypercholesterolemia 1 2019-08-22 criteria provided, single submitter clinical testing
Invitae RCV001083488 SCV000556781 benign Familial hypercholesterolemia 2019-12-31 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000030123 SCV000588550 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000030123 SCV000607555 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000030123 SCV000689757 benign Familial hypercholesterolemia 1 2017-06-22 criteria provided, single submitter clinical testing
GeneDx RCV000245346 SCV000730509 benign not specified 2017-05-11 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759074 SCV000888160 benign not provided 2018-05-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000759074 SCV001151657 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030123 SCV001286365 benign Familial hypercholesterolemia 1 2018-02-12 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000030123 SCV000606310 benign Familial hypercholesterolemia 1 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000030123 SCV000733818 benign Familial hypercholesterolemia 1 no assertion criteria provided clinical testing
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000030123 SCV001190847 benign Familial hypercholesterolemia 1 2020-02-05 no assertion criteria provided clinical testing

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