Variants studied for Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy 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
11	9	22	1	1	36

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
MSTO1	11	9	22	1	1	36

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
OMIM	9	0	1	0	0	10
Revvity Omics, Revvity	1	2	3	0	0	6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	2	4	0	0	6
Baylor Genetics	1	0	3	0	0	4
3billion	2	0	2	0	0	4
Juno Genomics, Hangzhou Juno Genomics, Inc	0	2	1	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	2	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	1	0	0	2
Daryl Scott Lab, Baylor College of Medicine	1	0	1	0	0	2
Undiagnosed Diseases Network, NIH	0	2	0	0	0	2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	1	0	0	0	2
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology	0	1	1	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	1	0	0	1
Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Care Hospital	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	0	0	1	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	1

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