Variants studied for Spinocerebellar ataxia 47

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	not provided	total
4	4	14	0	3	1	25

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
PUM1	4	4	13	3	1	24
LOC126805680, PUM1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 21

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
Baylor Genetics	1	0	3	0	0	4
Genome-Nilou Lab	0	0	0	3	0	3
Illumina Laboratory Services, Illumina	0	0	2	0	0	2
SIB Swiss Institute of Bioinformatics	0	2	0	0	0	2
OMIM	1	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	0	1	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
MGZ Medical Genetics Center	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	1	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
GenomeConnect, ClinGen	0	0	0	0	1	1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	0	0	1	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	0	1	0	0	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	1
Neurology Department, Shenzhen Children's Hospital	1	0	0	0	0	1

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