Variants studied for Kufor-Rakeb 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	not provided	total
13	10	91	17	23	2	149

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
ATP13A2	13	10	88	16	23	2	145
ATP13A2, LOC129929540	0	0	3	1	0	0	4

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	1	81	12	21	0	115
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	6	4	0	10
OMIM	8	0	0	0	0	0	8
Baylor Genetics	1	2	5	0	0	0	8
Genome-Nilou Lab	0	0	0	0	8	0	8
Solve-RD Consortium	0	3	0	0	0	0	3
Mendelics	1	0	1	0	0	0	2
Undiagnosed Diseases Network, NIH	2	0	0	0	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	0	2	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	1	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	1	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	0	1
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health	1	0	0	0	0	0	1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	0	1	0	0	0	0	1
3billion	1	0	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	0	0	1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM)	1	0	0	0	0	0	1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology	0	0	1	0	0	0	1

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