ClinVar Miner

Variants studied for Hyperinsulinemic hypoglycemia, familial, 1

Coded as:
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
50 111 159 21 10 330

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCC8 48 111 158 17 10 323
ABCC8, LOC110121471 2 0 1 2 0 5
ABCC8, KCNJ11 0 0 0 2 0 2

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 8 96 65 3 0 172
Illumina Clinical Services Laboratory,Illumina 2 0 89 16 9 116
Genetic Services Laboratory, University of Chicago 18 8 3 0 0 29
OMIM 16 0 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 3 0 0 0 11
Mendelics 3 1 3 2 0 9
Athena Diagnostics Inc 0 0 0 0 4 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 1 0 3
NxGen MDx 0 2 1 0 0 3
AIC-CCMB Diagnostics Facility, CSIR - Centre for Cellular and Molecular Biology 1 1 1 0 0 3
Baylor Genetics 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
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
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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 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

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