Variants studied for Dystonia 12

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
70	36	304	481	65	18	924

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	not provided	total
ATP1A3	70	35	298	477	64	18	913
ATP1A3, LOC130064543	0	0	6	4	1	0	10
SCN2A	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 23

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	64	25	267	478	40	0	874
Illumina Laboratory Services, Illumina	0	0	27	6	38	0	71
Genome-Nilou Lab	0	0	0	0	51	0	51
GeneReviews	0	0	0	0	0	18	18
OMIM	9	0	0	0	0	0	9
Baylor Genetics	4	2	2	0	0	0	8
Mendelics	3	4	1	0	0	0	8
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	1	4	0	0	0	7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	2	0	0	0	0	4
Institute of Human Genetics, University of Leipzig Medical Center	2	0	0	0	0	0	2
Institute of Human Genetics, University Hospital Muenster	0	2	0	0	0	0	2
3billion	1	0	1	0	0	0	2
MGZ Medical Genetics Center	0	0	1	0	0	0	1
Centogene AG - the Rare Disease Company	1	0	0	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	1	0	0	0	0	0	1
TIDEX, University of British Columbia	1	0	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	1	0	0	0	0	0	1
Kids Neuroscience Centre, Sydney Children's Hospitals Network	0	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	0	1

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