ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4B3

Included ClinVar conditions (1):
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
5 5 21 13 18 62

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
SBF1 4 5 21 13 18 61
PPP6R2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 13 13 15 41
Baylor Genetics 0 1 5 0 0 6
OMIM 3 0 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 2 0 0 3
Nilou-Genome Lab 0 0 0 0 3 3
IRCCS Fondazione Stella Maris,University of Pisa 2 0 0 0 0 2
Department of Medical Basic Sciences, Neurosciences and Sense Organs,University of Bari 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1

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