ClinVar Miner

Variants in gene combination ABCC8, KCNJ11

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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 not provided total
0 0 6 7 7 1 7

Condition and significance breakdown #

Total conditions: 19
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Condition uncertain significance likely benign benign not provided total
Hyperinsulinism, Dominant/Recessive 3 3 1 0 7
Maturity onset diabetes mellitus in young 5 4 0 0 7
Permanent neonatal diabetes mellitus 0 5 3 1 7
Transient Neonatal Diabetes, Dominant 3 3 1 0 7
not specified 0 3 4 0 6
Diabetes mellitus, transient neonatal, 3 0 1 4 0 5
Hyperinsulinemic hypoglycemia, familial, 2 4 1 1 0 5
Maturity-onset diabetes of the young type 13 0 3 2 0 5
not provided 0 0 4 0 4
Diabetes mellitus, transient neonatal, 2 0 0 2 0 2
Hereditary hyperinsulinism 0 0 2 0 2
Hyperinsulinemic hypoglycemia, familial, 1 0 2 1 0 2
Inborn genetic diseases 0 2 0 0 2
Diabetes mellitus type 2, susceptibility to 0 0 0 1 1
Diabetes mellitus, permanent neonatal 3 0 0 1 0 1
Exercise stress response, impaired, association with 0 0 0 1 1
Leucine-induced hypoglycemia 0 0 1 0 1
Neonatal hypoglycemia 1 0 0 0 1
Type 2 diabetes mellitus 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 4 7 7 0 7
Genetic Services Laboratory, University of Chicago 0 3 3 0 6
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 5 0 1 0 6
GeneDx 0 0 4 0 4
Preventiongenetics, part of Exact Sciences 0 0 4 0 4
Invitae 0 0 4 0 4
Natera, Inc. 0 0 4 0 4
Athena Diagnostics Inc 0 0 2 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 0 2
Ambry Genetics 0 2 0 0 2
OMIM 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 0 1 0 1
GeneReviews 0 0 0 1 1
Pars Genome Lab 0 0 1 0 1

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