Variants studied for Spinocerebellar ataxia type 23

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
4	1	46	7	19	74

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PDYN	4	1	46	7	19	74

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	40	5	19	64
OMIM	4	0	0	0	0	4
Mendelics	0	0	3	0	0	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	1	2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	1	2
O&I group, Department of Genetics, University Medical Center of Groningen	1	0	1	0	0	2
Baylor Genetics	0	0	1	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	1
Human Genetics Bochum, Ruhr University Bochum	0	1	0	0	0	1

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