Variants studied for Cognitive impairment with or without cerebellar ataxia

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
12	19	26	0	8	64

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
SCN8A	12	18	26	8	63
LOC114803470, SCN8A	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 22

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Baylor Genetics	1	3	7	0	11
Institute of Human Genetics, University of Leipzig Medical Center	0	5	5	0	10
Genome-Nilou Lab	0	0	0	8	8
Mendelics	6	1	0	0	7
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	0	3	4	0	7
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	3	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	2
3billion	1	0	1	0	2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	2	0	2
OMIM	1	0	0	0	1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	1	0	0	1
Institute of Human Genetics, Cologne University	0	1	0	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	1	0	0	1
Duke University Health System Sequencing Clinic, Duke University Health System	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	0	1	0	1
Laboratory of Medical Genetics, University of Torino	0	1	0	0	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	1	0	0	1
New York Genome Center	0	1	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	1	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	1
University of British Columbia, BC Children's Hospital	1	0	0	0	1

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