Variants studied for Charcot-Marie-Tooth disease, type 2A2A

Minimum submission review status:		Collection method:
Minimum conflict level:
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
23	16	5	1	0	42

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	total
MFN2	23	16	5	1	42

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
OMIM	15	0	0	0	15
Mendelics	1	5	4	1	11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	4	3	0	0	7
Athena Diagnostics Inc	4	2	0	0	6
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	2	0	0	2
Northcott Neuroscience Laboratory, ANZAC Research Institute	2	0	0	0	2
Baylor Genetics	1	0	0	0	1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	0	1	0	0	1
Institute of Human Genetics,Cologne University	1	0	0	0	1
Institute of Human Genetics,Klinikum rechts der Isar	1	0	0	0	1
Institute of Human Genetics, Uniklinik RWTH Aachen	0	0	1	0	1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	0	0	0	1
Human Genetics Unit,University of Colombo	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	1	0	0	0	1
Molecular Diagnostics Laboratory, M Health: University of Minnesota	0	1	0	0	1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea	1	0	0	0	1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico	1	0	0	0	1

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