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
26 8 4 0 1 37

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
SH3TC2 26 8 4 1 37

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance benign total
GeneReviews 21 0 0 0 21
OMIM 8 0 0 0 8
Fulgent Genetics,Fulgent Genetics 1 0 3 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 3 1 0 4
Mendelics 2 0 0 1 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 3
Athena Diagnostics Inc 2 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 2
Institute of Human Genetics,University of Goettingen 1 0 0 0 1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 1

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