ClinVar Miner

Variants studied for Hyperinsulinemic hypoglycemia, familial, 4

Coded as:
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 likely risk allele total
5 6 42 8 5 2 60

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele total
HADH 4 6 36 6 4 2 50
HADH, LOC129992931 1 0 6 2 1 0 10

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele total
Illumina Laboratory Services, Illumina 0 0 36 4 4 0 44
Broad Institute Rare Disease Group, Broad Institute 0 3 6 0 0 0 9
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 1 0 4 1 2 8
OMIM 5 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 0 0 0 2

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