Variants studied for Familial hyperinsulinism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
33	16	77	25	14	165

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
HNF4A	0	0	75	25	14	114
ABCC8	32	15	2	0	0	49
ABCC8, LOC110121471	1	0	0	0	0	1
GCK	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	75	25	14	114
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	33	14	1	0	0	48
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	1	0	0	2
Snyder Lab, Genetics Department, Stanford University	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	1	0	0	0	0	1

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