Variants studied for autosomal recessive spinocerebellar ataxia 2

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
7	1	12	1	2	23

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
PMPCA	4	1	7	0	2	14
LOC126860792, PMPCA	2	0	4	1	0	7
LOC130003010, PMPCA	1	0	1	0	0	2

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	0	0	5	0	0	5
OMIM	4	0	0	0	0	4
Revvity Omics, Revvity	0	0	2	0	0	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	2	0	0	0	0	2
Bruce Lefroy Centre, Murdoch Childrens Research Institute	1	0	1	0	0	2
Genome-Nilou Lab	0	0	0	0	2	2
3billion	0	1	1	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1
Laboratory of Medical Genetics, University of Torino	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	0	0	1

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