ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 2A2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 11 1 0 48

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 11 1 48

Submitter and significance breakdown #

Total submitters: 23
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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
Baylor Genetics 2 0 3 0 5
Fulgent Genetics,Fulgent Genetics 3 0 0 0 3
CMT Laboratory,Bogazici University 3 0 0 0 3
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
Clinical Genetics laboratory, University of Goettingen 0 0 1 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
Illumina Clinical Services Laboratory,Illumina 0 0 1 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
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: 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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