ClinVar Miner

Variants studied for Familial hypercholesterolemia

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 risk factor not provided total
1525 1042 920 455 222 2 2 3116

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LDLR 1437 1020 469 280 127 0 2 2434
APOB 30 7 246 116 40 0 0 347
PCSK9 33 11 124 47 44 0 0 208
LDLRAP1 0 0 49 3 6 0 0 58
LDLR, MIR6886 19 3 4 3 4 0 0 27
APOB, LOC106560211 2 0 15 3 1 0 0 19
APOB, APOB3'MAR 0 0 11 3 0 0 0 14
ABCA1 0 0 2 0 0 0 0 2
DOCK6, LDLR 2 0 0 0 0 0 0 2
APOA2 1 0 0 0 0 0 0 1
EPHX2 0 0 0 0 0 1 0 1
GHR 0 0 0 0 0 1 0 1
LDLR, SMARCA4 1 0 0 0 0 0 0 1
STAP1 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LDLR-LOVD, British Heart Foundation 576 789 113 182 26 0 0 1686
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 646 0 1 1 113 0 0 761
Illumina Clinical Services Laboratory,Illumina 6 2 285 128 6 0 0 427
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 138 215 27 24 11 0 0 415
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 134 71 139 8 51 0 0 403
Robarts Research Institute,Western University 24 154 94 76 20 0 0 368
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 299 43 0 4 0 0 0 346
Fundacion Hipercolesterolemia Familiar 129 77 118 5 5 0 0 334
Invitae 145 33 51 29 28 0 0 286
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 87 44 125 6 22 0 0 284
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 79 100 13 5 4 0 0 201
Color 0 1 29 58 73 0 0 160
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 137 1 13 1 1 0 0 153
Iberoamerican FH Network 41 37 54 2 10 0 0 144
OMIM 67 0 0 0 0 2 0 69
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 25 8 0 0 0 0 0 33
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 17 5 8 0 0 30
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 9 19 0 0 0 0 0 28
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 2 10 13 0 0 0 25
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 13 2 0 5 5 0 0 25
Institute for Integrative and Experimental Genomics,University of Luebeck 0 11 0 13 0 0 0 24
Integrated Genetics/Laboratory Corporation of America 3 5 5 1 7 0 0 21
Fulgent Genetics 13 2 0 0 0 0 0 15
Blueprint Genetics, 4 3 2 1 0 0 0 10
SNPedia 0 5 0 0 0 0 0 5
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 2 1 0 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 0 0 0 1 0 0 2
GeneReviews 2 0 0 0 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 1 0 0 0 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 0 0 0 0 0 1

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