ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 1

Included ClinVar conditions (13):
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 not provided total
92 7 136 37 52 3 319

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LITAF 11 1 76 18 22 0 123
MPZ 48 4 17 5 9 2 84
NEFL 9 1 24 7 14 0 55
EGR2 5 0 17 7 7 0 35
PMP22 15 1 2 0 0 1 19
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 0 0 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 1
MPZ, SDHC 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 87 25 50 0 162
Invitae 2 1 45 13 5 0 66
GeneReviews 50 0 0 0 0 0 50
OMIM 38 0 0 0 0 0 38
Athena Diagnostics Inc 12 1 0 0 3 0 16
Fulgent Genetics,Fulgent Genetics 2 1 5 0 0 0 8
Baylor Genetics 3 0 0 0 0 0 3
Mendelics 1 1 0 0 1 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 1 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1

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