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
49 119 99 3 10 264

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 37 103 71 2 4 205
KCNJ11 10 16 27 0 5 54
ABCC8, LOC110121471 2 0 1 1 0 4
ABCC8, KCNJ11 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 9 103 89 3 0 204
Genetic Services Laboratory, University of Chicago 21 12 4 0 0 37
OMIM 24 0 0 0 0 24
Fulgent Genetics 2 4 5 0 0 11
Athena Diagnostics Inc 0 0 0 0 10 10
Illumina Clinical Services Laboratory,Illumina 2 0 4 0 0 6
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
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 1

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