ClinVar Miner

Variants studied for diazoxide-resistant focal 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
53 124 102 5 10 275

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 41 108 74 4 4 215
KCNJ11 10 16 27 0 5 55
ABCC8, LOC110121471 2 0 1 1 0 4
ABCC8, KCNJ11 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Counsyl 10 105 90 3 0 208
Genetic Services Laboratory, University of Chicago 21 12 4 0 0 37
OMIM 24 0 0 0 0 24
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
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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 2
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 2 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
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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 1

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