Variants studied for Spinocerebellar ataxia type 21

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	3	5	0	1	18

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
TMEM240	6	3	5	1	13
SCYL1	5	0	0	0	5

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	10	0	0	0	10
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	3	1	0	0	4
Revvity Omics, Revvity	0	0	3	0	3
Genetic Services Laboratory, University of Chicago	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	0	1	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	0	1	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	1
Genomics England Pilot Project, Genomics England	0	1	0	0	1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	1	0	0	0	1

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