ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4C

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
25 9 361 72 111 572

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SH3TC2 25 9 359 72 111 570
LOC114004390, SH3TC2 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 349 72 110 531
GeneReviews 14 0 0 0 0 14
OMIM 8 0 0 0 0 8
Baylor Genetics 1 0 6 0 0 7
CMT Laboratory,Bogazici University 4 1 0 0 0 5
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 1 0 0 4
Mendelics 2 0 0 0 1 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 3
Athena Diagnostics Inc 2 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 1 0 0 1

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