ClinVar Miner

Variants studied for hyperinsulinemic hypoglycemia

Included ClinVar conditions (31):
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 uncertain risk allele total
176 260 742 386 102 7 23 1514

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele total
ABCC8 101 191 254 48 18 0 5 553
HADH 18 23 91 166 22 7 13 267
GLUD1 12 5 74 42 14 0 0 134
KCNJ11 12 23 91 11 8 0 0 129
HNF4A 1 2 75 25 14 0 0 117
GCK 15 9 50 24 9 0 0 107
SLC16A1 2 2 45 10 4 0 0 63
INSR 3 3 16 23 2 0 3 48
ABCC8, LOC110121471 2 1 3 8 2 0 0 16
LOC129931218, SLC16A1 2 0 13 1 0 0 0 16
GLUD1, SHLD2 0 0 9 6 0 0 0 15
HADH, LOC129992931 1 0 8 8 5 0 2 14
GLUD1, LOC130004255, SHLD2 0 0 6 7 1 0 0 13
ABCC8, KCNJ11 0 0 4 3 2 0 0 7
GLUD1, LOC130004254 0 0 1 4 1 0 0 5
CFAP61, CRNKL1, INSM1, KIZ, NAA20, NKX2-2, NKX2-4, PAX1, RALGAPA2, RIN2, SLC24A3, XRN2 1 1 0 0 0 0 0 2
SLC25A36 2 0 0 0 0 0 0 2
BANF2, BFSP1, CD93, CFAP61, CRNKL1, CST1, CST11, CST2, CST3, CST4, CST5, CST8, CST9, CST9L, CSTL1, DSTN, DTD1, DZANK1, FOXA2, GGTLC1, GZF1, INSM1, KAT14, KIF16B, KIZ, MGME1, NAA20, NAPB, NKX2-2, NKX2-4, NXT1, OTOR, OVOL2, PAX1, PCSK2, PET117, POLR3F, RALGAPA2, RBBP9, RIN2, RRBP1, SCP2D1, SEC23B, SLC24A3, SNRPB2, SNX5, SSTR4, THBD, XRN2, ZNF133 1 0 0 0 0 0 0 1
CD93, CFAP61, CST1, CST11, CST2, CST3, CST4, CST5, CST8, CST9, CST9L, CSTL1, FOXA2, GGTLC1, GZF1, INSM1, KIZ, NAPB, NKX2-2, NKX2-4, NXT1, PAX1, RALGAPA2, SSTR4, THBD, XRN2 1 0 0 0 0 0 0 1
CFAP61, CRNKL1, DTD1, DZANK1, FOXA2, INSM1, KIZ, NAA20, NKX2-2, NKX2-4, PAX1, POLR3F, RALGAPA2, RBBP9, RIN2, SCP2D1, SEC23B, SLC24A3, XRN2, ZNF133 1 0 0 0 0 0 0 1
CYP2U1, HADH, SGMS2 0 0 1 0 0 0 0 1
HNF1A 1 0 0 0 0 0 0 1
YARS1 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele total
Illumina Laboratory Services, Illumina 4 0 387 87 50 0 0 519
Labcorp Genetics (formerly Invitae), Labcorp 16 5 94 194 23 0 0 332
Fulgent Genetics, Fulgent Genetics 25 21 109 54 5 0 0 214
Counsyl 8 104 87 3 0 0 0 202
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 9 7 47 17 7 23 110
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 43 29 37 0 0 0 0 109
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 45 23 1 0 0 0 0 69
OMIM 50 0 0 0 0 0 0 50
Genetic Services Laboratory, University of Chicago 27 15 2 1 0 0 0 45
Myriad Genetics, Inc. 2 33 7 0 0 0 0 42
New York Genome Center 2 0 30 0 0 0 0 32
Pars Genome Lab 0 0 0 6 18 0 0 24
Baylor Genetics 4 10 8 0 0 0 0 22
Mendelics 6 3 3 3 1 0 0 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 3 5 0 0 0 0 13
Athena Diagnostics 0 0 0 0 10 0 0 10
3billion 5 3 2 0 0 0 0 10
Molecular Genetics, Madras Diabetes Research Foundation 3 5 2 0 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 3 1 5 0 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 2 0 5 1 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 1 0 0 0 6
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 4 2 0 0 0 0 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 2 0 0 0 0 6
Genome-Nilou Lab 1 0 1 1 3 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 0 0 0 0 5
Monogenic Research Group, University Of Exeter Medical School 4 1 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 3 0 1 0 0 0 0 4
NxGen MDx 0 3 1 0 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 2 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 2
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 0 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 1
Department of Medical Genetics, Institute of Mother and Child, Institute of Mother and Child 0 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Center for Human Genetics, University Hospitals Cleveland Medical Center 0 0 1 0 0 0 0 1
Suma Genomics, Suma Genomics 0 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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