ClinVar Miner

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

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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
70 21 196 106 9 1 385

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GDAP1 62 20 168 86 4 1 324
GDAP1, LOC130000622 8 1 25 20 5 0 58
GDAP1, JPH1, LY96, TMEM70 0 0 2 0 0 0 2
GDAP1, JPH1, LOC126860420, LOC129390012, LOC130000614, LOC130000615, LOC130000616, LOC130000617, LOC130000618, LOC130000619, LOC130000620, LOC130000621, LOC130000622, LY96, TMEM70 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 14 172 106 7 0 364
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 20 0 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 4 0 0 0 0 8
3billion 2 0 2 0 0 0 4
CMT Laboratory, Bogazici University 4 0 0 0 0 0 4
OMIM 3 0 0 0 0 0 3
Mendelics 1 1 1 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 0 2
Athena Diagnostics 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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