Variants studied for Spinocerebellar ataxia type 6

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
15	11	14	0	21	2	60

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
CACNA1A	14	10	14	19	2	56
CACNA1A, LOC108663985	1	0	0	2	0	3
CACNA1A, LOC126862864	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
Genome-Nilou Lab	0	0	0	20	0	20
O&I group, Department of Genetics, University Medical Center of Groningen	3	2	5	0	0	10
Baylor Genetics	1	2	3	0	0	6
Genomics England Pilot Project, Genomics England	1	5	0	0	0	6
OMIM	4	0	0	0	0	4
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	2	0	0	3
UniProtKB/Swiss-Prot	0	0	0	0	2	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	0	0	0	2
3billion	2	0	0	0	0	2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)	1	0	1	0	0	2
Centogene AG - the Rare Disease Company	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
SIB Swiss Institute of Bioinformatics	0	0	1	0	0	1
Division of Genomics, Kyushu university	1	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	0	1	0	1

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