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
84 172 210 26 20 470

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCC8 82 171 207 19 18 456
ABCC8, LOC110121471 2 1 3 4 1 11
ABCC8, KCNJ11 0 0 0 2 1 2
HADH 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 8 95 62 3 0 168
Illumina Laboratory Services, Illumina 3 0 90 16 9 118
Broad Institute Rare Disease Group, Broad Institute 43 26 30 0 0 99
Myriad Genetics, Inc. 2 33 7 0 0 42
Genetic Services Laboratory, University of Chicago 18 8 1 1 0 28
New York Genome Center 0 0 19 0 0 19
Pars Genome Lab 0 0 0 3 16 19
OMIM 16 0 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 3 0 0 0 12
3billion 5 3 2 0 0 10
Molecular Genetics, Madras Diabetes Research Foundation 3 5 2 0 0 10
Mendelics 3 1 2 2 1 9
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 1 0 4
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 2 0 0 4
Athena Diagnostics Inc 0 0 0 0 3 3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 3
Genetics and Molecular Pathology, SA Pathology 2 0 1 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
Diagnostics Services (NGS), 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 2
Department of Endocrinology, Genetics and Metabolism, Shanghai Children's Medical Center 0 2 0 0 0 2
Institute of Human Genetics, 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Genome-Nilou Lab 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 1 0 1

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