Variants studied for Spinocerebellar ataxia type 27

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
4	2	28	7	15	55

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FGF14	3	1	27	7	15	52
FGF14, ITGBL1	1	0	1	0	0	2
FGF14, LOC124946331, MIR2681	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	25	6	15	46
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	1	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	2	0	0	2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	1	2
Molecular Genetics of Human Eye Development, Oxford Brookes University	2	0	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	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
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	1	0	0	0	1
Medical Institute of Bioregulation, Kyushu university	1	0	0	0	0	1

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