Variants studied for Friedreich 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
10	6	3	1	1	21

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
FXN	6	5	1	1	0	13
FXN, LOC130001862	2	1	2	0	1	6
FXN, LOC108510657	2	0	0	0	0	2

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	8	1	0	0	0	9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	2	0	0	0	3
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	2	0	0	2
Kids Neuroscience Centre, Sydney Children's Hospitals Network	1	1	0	0	0	2
Baylor Genetics	0	0	1	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	1
Institute of Human Genetics, Cologne University	1	0	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	1
Genomic Medicine Lab, University of California San Francisco	0	1	0	0	0	1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	0	1	0	0	0	1
Institute of Genomic Medicine, Catholic University	0	0	0	1	0	1
Genome-Nilou Lab	0	0	0	0	1	1

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