Variants studied for Autosomal dominant cerebellar ataxia

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
2	1	265	123	138	529

Gene and significance breakdown #

Total genes and gene combinations: 21

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ITPR1	0	0	99	34	75	208
DYNC1H1	0	0	76	40	51	167
SPTBN2	0	0	49	29	1	79
FGF14	0	0	6	6	2	14
PDYN	0	0	6	2	1	9
DYNC1H1, LOC126862060	0	0	4	2	1	7
AFG3L2	0	0	1	5	0	6
DYNC1H1, LOC125078040	0	0	3	1	2	6
FAT1	0	0	6	0	0	6
ITPR1, LOC126806590	0	0	2	0	4	6
ITPR1, LOC129936059	0	0	3	0	1	4
KIF26B	1	0	3	0	0	4
PRKCG	0	0	2	1	0	3
TTBK2	0	0	1	2	0	3
DAGLA, MYRF	0	1	0	0	0	1
DYNC1H1, LOC130056502	0	0	1	0	0	1
EP300	0	0	1	0	0	1
FAT1, LOC126807255	0	0	1	0	0	1
MTCL1	0	0	1	0	0	1
OPA1	1	0	0	0	0	1
TGM6	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	251	123	138	512
O&I group, Department of Genetics, University Medical Center of Groningen	1	0	11	0	0	12
Molecular Genetics, Royal Melbourne Hospital	0	0	3	0	0	3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	1	0	0	0	2

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