Variants studied for Auditory neuropathy-optic atrophy 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	total
7	13	9	0	1	26

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
FDXR	7	11	9	1	24
FDXR, GRIN2C	0	1	0	0	1
FDXR, LOC112533667	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
3billion	1	3	1	0	5
OMIM	4	0	0	0	4
Baylor Genetics	1	2	1	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	2	0	3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	0	0	0	2
Department of Pathology and Laboratory Medicine, Sinai Health System	1	1	0	0	2
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	2	0	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	2	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	1	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	1
Mendelics	0	0	1	0	1
Fulgent Genetics, Fulgent Genetics	1	0	0	0	1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas	0	1	0	0	1
Genome-Nilou Lab	0	0	0	1	1
WangQJ Lab, Chinese People's Liberation Army General Hospital	0	1	0	0	1

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