Variants studied for Autosomal recessive spinocerebellar ataxia 16

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
14	8	8	0	1	29

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
STUB1	9	4	4	0	15
JMJD8, STUB1	5	4	3	1	13
JMJD8, RHBDL1, STUB1, WDR24	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	11	0	0	0	11
Genetic Services Laboratory, University of Chicago	1	2	0	0	3
3billion	0	1	2	0	3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	1	0	0	2
Institute of Human Genetics, University Hospital of Duesseldorf	2	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	0	2	0	0	2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	1	0	1	0	2
Genomics England Pilot Project, Genomics England	0	2	0	0	2
Baylor Genetics	0	0	1	0	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	0	1	0	1
Mendelics	0	0	1	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
University of Uludag Hospital, Genetic Diseases Diagnostic Center, University of Uludag	0	1	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	1

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