ClinVar Miner

Variants studied for cholesterol metabolism disease

Included ClinVar conditions (4):
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
342 328 784 915 102 16 2180

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CYP27A1 155 121 358 482 24 3 1030
DHCR7 161 200 257 402 38 13 884
SC5D 7 1 103 10 17 0 137
DHCR24 8 6 63 19 20 0 112
​intergenic 6 0 0 0 0 0 6
CLCN1 2 0 0 0 0 0 2
DHCR7, NADSYN1 0 0 1 2 1 0 2
LDLR 0 0 0 0 2 0 2
LOC130006930, SC5D 0 0 2 0 0 0 2
C5 1 0 0 0 0 0 1
CYP27A1, PRKAG3, WNT6 1 0 0 0 0 0 1
TSHR 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 75
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 280 87 384 853 44 0 1648
Illumina Laboratory Services, Illumina 7 7 268 47 52 0 381
Fulgent Genetics, Fulgent Genetics 52 95 108 21 2 0 278
Natera, Inc. 49 15 94 51 29 0 238
Counsyl 9 80 68 1 0 0 158
Baylor Genetics 80 65 5 0 0 0 150
GeneReviews 56 0 0 0 3 15 74
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 41 31 0 0 0 0 72
OMIM 46 0 0 0 0 0 46
Myriad Genetics, Inc. 11 34 0 0 0 0 45
Revvity Omics, Revvity 21 8 9 0 0 0 38
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 1 4 3 14 0 30
Genome-Nilou Lab 3 1 3 3 15 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 0 3 0 0 0 13
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 8 3 0 0 0 0 11
New York Genome Center 4 1 3 0 0 0 8
Mendelics 3 3 0 1 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 1 4 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 6 0 1 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 1 0 4 0 0 7
3billion, Medical Genetics 3 3 1 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 4 0 0 0 6
Athena Diagnostics 0 0 0 0 5 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 1 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 1 0 0 1 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 3 0 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 1 2 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 2 0 0 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 1 0 0 0 0 4
MGZ Medical Genetics Center 2 2 0 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 2 0 0 0 0 4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 0 0 0 0 4
DASA 4 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 4 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 0 1 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 1 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 1 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 0 1 0 0 0 3
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile 3 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Hadassah Hebrew University Medical Center 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 1 0 0 0 2
Biochemistry Laboratory of CDMU, Chengde Medical University 2 0 0 0 0 0 2
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 2 0 0 0 0 0 2
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 0 0 0 0 2
Pars Genome Lab 0 0 0 1 1 0 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 2 0 0 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 1 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases/IbSalut 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

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