ClinVar Miner

Variants studied for diazoxide-sensitive diffuse hyperinsulinism

Included ClinVar conditions (23):
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 likely risk allele total
151 232 637 319 73 2 1308

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele total
ABCC8 89 178 248 48 18 0 534
HADH 16 16 87 153 11 2 258
GLUD1 11 5 72 42 14 0 133
KCNJ11 12 21 91 11 7 0 128
GCK 15 8 50 24 9 0 106
SLC16A1 1 1 44 10 4 0 60
ABCC8, LOC110121471 2 1 3 8 2 0 16
LOC129931218, SLC16A1 2 0 13 1 0 0 16
GLUD1, SHLD2 0 0 9 6 0 0 15
GLUD1, LOC130004255, SHLD2 0 0 6 7 1 0 13
HADH, LOC129992931 1 0 8 2 4 0 12
ABCC8, KCNJ11 0 0 4 3 2 0 7
GLUD1, LOC130004254 0 0 1 4 1 0 5
HNF4A 1 2 0 0 0 0 3
CYP2U1, HADH, SGMS2 0 0 1 0 0 0 1
HNF1A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele total
Illumina Laboratory Services, Illumina 4 0 312 62 36 0 405
Invitae 14 5 94 194 23 0 330
Counsyl 8 104 87 3 0 0 202
Fulgent Genetics, Fulgent Genetics 25 20 98 50 4 0 197
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 43 29 36 0 0 0 108
OMIM 47 0 0 0 0 0 47
Genetic Services Laboratory, University of Chicago 26 15 2 1 0 0 44
Myriad Genetics, Inc. 2 33 7 0 0 0 42
New York Genome Center 2 0 30 0 0 0 32
Pars Genome Lab 0 0 0 6 18 0 24
Baylor Genetics 4 8 7 0 0 0 19
Mendelics 6 3 3 3 1 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 3 0 0 0 0 12
Athena Diagnostics Inc 0 0 0 0 10 0 10
3billion 5 3 2 0 0 0 10
Molecular Genetics, Madras Diabetes Research Foundation 3 5 2 0 0 0 10
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 0 5 1 2 9
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 1 4 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 2 0 4 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 1 0 0 6
Genome-Nilou Lab 1 0 1 1 3 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 1 0 0 0 5
NxGen MDx 0 3 1 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 1 0 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1

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