ClinVar Miner

Variants studied for congenital isolated hyperinsulinism

Included ClinVar conditions (28):
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 not provided total
187 297 866 345 73 2 5 3 1638

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
ABCC8 106 222 384 53 18 0 5 3 718
HADH 21 20 94 163 11 2 0 0 282
KCNJ11 12 28 125 11 6 0 0 0 166
GCK 22 16 78 25 9 0 0 0 149
GLUD1 11 5 82 48 15 0 0 0 148
SLC16A1 2 2 46 10 4 0 0 0 64
ABCC8, LOC110121471 4 1 13 8 2 0 0 0 27
GLUD1, SHLD2 0 0 10 7 0 0 0 0 17
GLUD1, LOC130004255, SHLD2 0 0 7 9 1 0 0 0 16
LOC129931218, SLC16A1 2 0 13 1 0 0 0 0 16
HADH, LOC129992931 1 0 8 2 4 0 0 0 12
GLUD1, LOC130004254 0 0 2 5 1 0 0 0 7
ABCC8, KCNJ11 0 0 3 3 2 0 0 0 6
HNF4A 1 2 0 0 0 0 0 0 3
CFAP61, CRNKL1, INSM1, KIZ, NAA20, NKX2-2, NKX2-4, PAX1, RALGAPA2, RIN2, SLC24A3, XRN2 1 1 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 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 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 0 1
CYP2U1, HADH, SGMS2 0 0 1 0 0 0 0 0 1
HNF1A 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele uncertain risk allele not provided total
Fulgent Genetics, Fulgent Genetics 57 94 323 56 4 0 0 0 532
Illumina Laboratory Services, Illumina 4 0 304 62 36 0 0 0 397
Labcorp Genetics (formerly Invitae), Labcorp 20 6 108 214 24 0 0 0 372
Counsyl 8 104 87 3 0 0 0 0 202
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 45 31 42 0 0 0 0 0 118
OMIM 47 0 0 0 0 0 0 0 47
Genetic Services Laboratory, University of Chicago 26 15 2 1 0 0 0 0 44
Myriad Genetics, Inc. 2 33 7 0 0 0 0 0 42
New York Genome Center 2 0 30 0 0 0 0 0 32
Pars Genome Lab 0 0 0 6 18 0 0 0 24
Baylor Genetics 4 10 7 0 0 0 0 0 21
Mendelics 6 3 3 3 1 0 0 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 6 3 6 0 0 0 0 0 15
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 2 0 5 1 2 5 0 15
3billion 7 3 4 0 0 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 3 0 0 0 0 0 0 12
Molecular Genetics, Madras Diabetes Research Foundation 3 5 2 0 0 0 0 0 10
Athena Diagnostics 0 0 0 0 9 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 4 0 0 0 0 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 4 1 4 0 0 0 0 0 9
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 5 1 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 3 3 1 0 0 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 2 0 4 0 0 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 1 0 0 0 0 6
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 2 0 0 0 0 0 6
Genome-Nilou Lab 1 0 1 1 3 0 0 0 6
Monogenic Research Group, University Of Exeter Medical School 4 1 0 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 0 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 1 0 0 0 0 0 0 4
NxGen MDx 0 3 1 0 0 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 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 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 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 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 1 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 1 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 0 0 2
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 1 0 0 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 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 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 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 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 0 1
Suma Genomics 0 1 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 0 1 0 0 0 0 0 0 1

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