ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease X-linked dominant 6

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 total
2 0 85 55 24 165

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
PDK3 2 83 55 24 163
LOC130068067, PDK3 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 1 81 55 22 159
OMIM 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 1
Revvity Omics, Revvity 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 1
New York Genome Center 0 1 0 0 1
Genome-Nilou Lab 0 0 0 1 1
Inherited Neuropathy Consortium Ii, University Of Miami 1 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 1

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