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
24 4 3 0 0 30

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SH3TC2 24 4 3 30

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
GeneReviews 21 0 0 21
OMIM 8 0 0 8
Fulgent Genetics 1 0 3 4
Athena Diagnostics Inc 3 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 1 0 2
Institute of Human Genetics,University of Goettingen 1 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 1

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