Variants studied for Warburg micro syndrome 1

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	not provided	total
33	6	54	6	17	9	116

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	not provided	total
RAB3GAP1	32	6	54	6	17	9	115
LOC111562379, LOC129934831, RAB3GAP1, SNORA40B	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	52	6	17	0	75
OMIM	13	0	0	0	0	0	13
GeneReviews	0	0	0	0	0	9	9
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	2	1	1	0	0	0	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	4	0	0	0	0	0	4
Baylor Genetics	2	0	1	0	0	0	3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	3	0	0	0	0	0	3
Genetic Services Laboratory, University of Chicago	2	0	0	0	0	0	2
Daryl Scott Lab, Baylor College of Medicine	2	0	0	0	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	0	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	1	1	0	0	0	0	2
Genome-Nilou Lab	0	0	0	0	2	0	2
3billion	2	0	0	0	0	0	2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	2	0	0	0	0	2
MGZ Medical Genetics Center	0	1	0	0	0	0	1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital	1	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	1	0	0	0	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	1	0	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	0	0	1
Ege University Pediatric Genetics, Ege University	1	0	0	0	0	0	1
Laboratory of Medical Genetics, University of Torino	1	0	0	0	0	0	1
Molecular Medicine, University of Pavia	1	0	0	0	0	0	1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences	1	0	0	0	0	0	1

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