ClinVar Miner

Variants in gene combination ABCC8, LOC110121471

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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 total
2 0 1 4 0 7

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic uncertain significance likely benign total
Persistent hyperinsulinemic hypoglycemia of infancy 2 1 1 4
not specified 0 0 2 2
Hyperinsulinism, Dominant/Recessive 0 0 1 1
Permanent neonatal diabetes mellitus 0 0 1 1
Transient Neonatal Diabetes, Dominant 0 0 1 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign total
Genetic Services Laboratory, University of Chicago 1 0 1 2
Counsyl 0 1 1 2
OMIM 1 0 0 1
PreventionGenetics 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 1

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