Variants studied for Spinocerebellar ataxia 48

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
10	11	10	0	1	31

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
JMJD8, STUB1	7	7	7	1	22
STUB1	3	4	2	0	8
JMJD8, RHBDL1, STUB1, WDR24	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	8	2	0	0	10
OMIM	5	0	0	0	5
Centogene AG - the Rare Disease Company	0	1	1	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	1	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	1	0	0	2
Institute of Human Genetics, University of Leipzig Medical Center	0	2	0	0	2
Molecular Genetics, Royal Melbourne Hospital	0	1	1	0	2
Institute of Immunology and Genetics Kaiserslautern	1	0	1	0	2
Baylor Genetics	0	0	1	0	1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	0	1	0	1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia	0	1	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	1	0	0	1
Genome-Nilou Lab	0	0	0	1	1
3billion	0	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1
Human Genetics Bochum, Ruhr University Bochum	0	0	1	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	1

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