Variants studied for Hyperinsulinism-hyperammonemia syndrome

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
11	5	90	59	16	167

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
GLUD1	11	5	74	42	14	134
GLUD1, SHLD2	0	0	9	6	0	15
GLUD1, LOC130004255, SHLD2	0	0	6	7	1	13
GLUD1, LOC130004254	0	0	1	4	1	5

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	5	0	39	49	16	109
Illumina Laboratory Services, Illumina	1	0	35	10	3	49
OMIM	9	0	0	0	0	9
Genetic Services Laboratory, University of Chicago	3	1	0	0	0	4
Revvity Omics, Revvity	0	0	3	0	0	3
New York Genome Center	0	0	3	0	0	3
Neuberg Centre For Genomic Medicine, NCGM	1	0	2	0	0	3
Baylor Genetics	0	0	2	0	0	2
Athena Diagnostics	0	0	0	0	2	2
Genetics and Molecular Pathology, SA Pathology	0	0	2	0	0	2
Mendelics	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	1	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	0	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1
Suma Genomics	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1

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