Variants studied for Mitochondrial myopathy-lactic acidosis-deafness 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
5	5	10	0	2	22

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
PNPLA8	5	5	10	2	22

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Baylor Genetics	2	0	2	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	3	0	3
OMIM	2	0	0	0	2
Institute of Human Genetics, Cologne University	0	1	1	0	2
Genome-Nilou Lab	0	0	0	2	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	1	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	1

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