Variants studied for Spinocerebellar ataxia type 13

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
5	2	19	8	4	36

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
KCNC3	4	2	16	8	4	32
KCNC3, LOC111811967	1	0	2	0	0	3
KCNC3, LOC130064972	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 25

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Fulgent Genetics, Fulgent Genetics	1	0	3	3	0	7
Revvity Omics, Revvity	0	0	6	0	0	6
Genome Diagnostics Laboratory, University Medical Center Utrecht	1	0	0	1	3	5
O&I group, Department of Genetics, University Medical Center of Groningen	2	1	2	0	0	5
Baylor Genetics	0	0	4	0	0	4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	3	1	4
OMIM	3	0	0	0	0	3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	1	0	0	1	1	3
Mendelics	0	0	1	1	0	2
Institute of Human Genetics, University of Leipzig Medical Center	1	1	0	0	0	2
3billion	2	0	0	0	0	2
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	1
MGZ Medical Genetics Center	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	1	0	0	0	0	1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	1	0	0	0	0	1
New York Genome Center	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	1	0	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	1	0	0	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1

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