ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease axonal type 2C

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
12 7 205 68 44 1 318

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
TRPV4 12 6 202 68 44 1 314
MIR4497, TRPV4 0 0 3 0 0 0 3
NEFH 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 3 164 50 35 0 262
Illumina Clinical Services Laboratory,Illumina 0 0 47 27 30 0 104
OMIM 8 0 0 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 5 0 0 0 8
Mendelics 0 0 0 2 2 0 4
Athena Diagnostics Inc 2 0 0 0 0 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 0 1 0 1

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