ClinVar Miner

Variants studied for hypercholesterolemia, autosomal dominant, type B

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
134 49 952 1835 306 4 2900

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
APOB 130 43 900 1766 291 4 2762
APOB, LOC106560211 2 6 35 52 12 0 103
APOB, APOB3'MAR 1 0 15 17 3 0 32
AMPD1 0 0 2 0 0 0 2
LDLR 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 123 21 532 1775 299 0 2750
Illumina Laboratory Services, Illumina 2 0 193 61 32 0 288
Fulgent Genetics, Fulgent Genetics 9 4 231 16 0 0 260
New York Genome Center 4 1 52 0 0 0 57
Institute of Human Genetics, University of Leipzig Medical Center 3 3 16 1 0 0 23
Juno Genomics, Hangzhou Juno Genomics, Inc 4 7 0 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 5 0 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Mendelics 5 1 0 0 0 0 6
Baylor Genetics 2 2 1 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 0 2 0 1 0 4
Institute of Immunology and Genetics Kaiserslautern 2 1 1 0 0 0 4
GeneReviews 0 0 0 0 0 3 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 1 1 1 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 0 1 0 0 3
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
All of Us Research Program, National Institutes of Health 2 0 1 0 0 0 3
OMIM 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Region Ostergotland 2 0 0 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Blueprint Genetics 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Arcensus 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 0 1

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