Variants studied for Dystonia 9

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
17	1	107	52	53	225

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SLC2A1	16	1	106	51	52	221
LOC129930369, SLC2A1	0	0	1	1	0	2
SLC2A1, SLC2A1-DT	1	0	0	0	1	2

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Genome-Nilou Lab	0	0	67	49	31	147
Illumina Laboratory Services, Illumina	0	0	41	3	39	83
Mendelics	11	0	0	0	0	11
Baylor Genetics	0	0	3	0	0	3
OMIM	2	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	2
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
MGZ Medical Genetics Center	1	0	0	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	1

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