Variants studied for 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	total
6	6	23	4	9	48

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SPTBN2	6	6	22	4	9	47
PRKCG	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	12	4	5	21
Neuberg Centre For Genomic Medicine, NCGM	0	1	5	0	0	6
Genome-Nilou Lab	0	0	0	0	4	4
OMIM	3	0	0	0	0	3
Baylor Genetics	0	1	1	0	0	2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris	1	1	0	0	0	2
3billion	0	0	2	0	0	2
MGZ Medical Genetics Center	0	0	1	0	0	1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Center for Precision Medicine, Vanderbilt University Medical Center	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	0	1	0	0	1
Palindrome, Gene Kavoshgaran Aria	1	0	0	0	0	1
Solve-RD Consortium	0	1	0	0	0	1

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