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	101	69	17	188

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	82	48	15	148
GLUD1, SHLD2	0	0	10	7	0	17
GLUD1, LOC130004255, SHLD2	0	0	7	9	1	16
GLUD1, LOC130004254	0	0	2	5	1	7

Submitter and significance breakdown #

Total submitters: 25

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	6	0	51	59	17	133
Illumina Laboratory Services, Illumina	1	0	34	10	3	48
OMIM	9	0	0	0	0	9
Genetic Services Laboratory, University of Chicago	3	1	0	0	0	4
Neuberg Centre For Genomic Medicine, NCGM	2	0	2	0	0	4
New York Genome Center	0	0	3	0	0	3
Revvity Omics, Revvity	0	0	3	0	0	3
3billion	1	0	1	0	0	2
Athena Diagnostics	0	0	0	0	2	2
Baylor Genetics	0	0	2	0	0	2
Fulgent Genetics, Fulgent Genetics	1	0	1	0	0	2
Genetics and Molecular Pathology, SA Pathology	0	0	2	0	0	2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	1	0	0	2
Center of Genomic medicine, Geneva, University Hospital of Geneva	1	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	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
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
Mendelics	0	1	0	0	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	1
Suma Genomics	0	1	0	0	0	1

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