ClinVar Miner

Variants studied for diazoxide-resistant hyperinsulinism

Included ClinVar conditions (5):
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
58 124 239 26 18 433

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 46 108 155 16 10 313
KCNJ11 10 16 79 5 7 108
ABCC8, KCNJ11 0 0 4 3 1 7
ABCC8, LOC110121471 2 0 1 2 0 5

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 8 105 90 3 0 206
Illumina Clinical Services Laboratory,Illumina 2 0 146 22 11 181
Genetic Services Laboratory, University of Chicago 21 12 4 0 0 37
OMIM 24 0 0 0 0 24
Integrated Genetics/Laboratory Corporation of America 8 3 0 0 0 11
Fulgent Genetics,Fulgent Genetics 2 4 5 0 0 11
Athena Diagnostics Inc 0 0 0 0 10 10
Mendelics 3 1 3 2 0 9
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 2 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Myriad Women's Health, Inc. 2 0 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 1 0 0 0 0 1
Mayo Clinic Genetic Testing 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: University of Minnesota 0 1 0 0 0 1

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