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)

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
49	40	76	25	14	204

Gene and significance breakdown #

Total genes and gene combinations: 7

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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	41	29	1	0	0	71
KCNJ11	6	8	0	0	0	14
HADH	0	2	0	0	0	2
ABCC8, LOC110121471	1	0	0	0	0	1
GCK	0	1	0	0	0	1
GLUD1	1	0	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	49	38	0	0	0	87
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	1	0	0	2
Reproductive Health Research and Development, BGI Genomics	1	0	0	0	0	1
Snyder Lab, Genetics Department, Stanford University	0	1	0	0	0	1

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