Variants studied for Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

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
10	2	2	0	5	4	22

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
RFC1	10	1	2	5	4	21
ELF2	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	not provided	total
OMIM	6	0	0	0	0	6
GeneReviews	0	0	0	1	4	5
Genome-Nilou Lab	0	0	0	4	0	4
Baylor Genetics	0	1	1	0	0	2
Neurogenetics Research; Murdoch Childrens Research Institute	2	0	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1
Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	1
Undiagnosed Diseases Network, NIH	1	0	0	0	0	1

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