Variants studied for autosomal recessive spinocerebellar ataxia 17

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
9	10	5	0	2	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	total
CWF19L1	9	10	3	1	22
CHUK-DT, CWF19L1	0	0	2	1	3

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	3	0	0	0	3
Molecular Genetics, Royal Melbourne Hospital	0	0	2	1	3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	1	1	0	2
Fulgent Genetics, Fulgent Genetics	0	0	1	1	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	1	0	0	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	1	0	2
Institute of Bioinformatics	1	1	0	0	2
New York Genome Center	1	1	0	0	2
Movement Disorders Program, Boston Children's Hospital	0	1	1	0	2
Revvity Omics, Revvity	1	0	0	0	1
MGZ Medical Genetics Center	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	1
Mendelics	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	1
3billion	1	0	0	0	1
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University	1	0	0	0	1

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