ClinVar Miner

Variants studied for congenital isolated hyperinsulinism

Included ClinVar conditions (13):
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 total
96 133 442 86 52 756

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCC8 49 111 159 17 10 324
KCNJ11 11 16 80 6 7 110
GLUD1 11 1 45 17 9 78
HADH 9 1 55 14 13 78
SLC16A1 3 1 56 9 3 72
GCK 10 1 36 15 8 70
GLUD1, SHLD2 0 0 6 3 1 9
ABCC8, KCNJ11 0 0 4 3 1 7
ABCC8, LOC110121471 2 0 1 2 0 5
HNF4A 1 2 0 0 0 3

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 2 0 312 62 36 402
Counsyl 8 105 90 3 0 206
Invitae 4 0 26 18 10 58
OMIM 47 0 0 0 0 47
Genetic Services Laboratory, University of Chicago 27 15 4 0 0 46
Fulgent Genetics,Fulgent Genetics 6 5 9 0 0 20
Mendelics 6 1 4 3 0 14
Athena Diagnostics Inc 0 0 0 0 12 12
Integrated Genetics/Laboratory Corporation of America 8 3 0 0 0 11
Baylor Genetics 0 0 5 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 1 0 4
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 2 1 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 2 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 1 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 1 0 0 3
NxGen MDx 0 2 1 0 0 3
Kasturba Medical College, Manipal University 2 0 0 0 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 1
Elsea Laboratory,Baylor College of Medicine 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 1
Nilou-Genome Lab 0 0 0 0 1 1
Pars Genome Lab 0 0 0 1 0 1

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