Variants studied for Spinocerebellar ataxia type 5; Autosomal recessive spinocerebellar ataxia 14

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
0	1	10	1	0	2	14

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	likely pathogenic	uncertain significance	likely benign	not provided	total
SPTBN2	1	10	1	2	14

Submitter and significance breakdown #

Total submitters: 6

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Submitter	likely pathogenic	uncertain significance	likely benign	not provided	total
Fulgent Genetics, Fulgent Genetics	0	5	1	0	6
GenomeConnect, ClinGen	0	0	0	2	2
New York Genome Center	0	2	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	2	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	1	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	1	0	0	0	1

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