ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease, type IA

Coded as:
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
19 4 4 0 0 4 27

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
PMP22 13 4 4 3 20
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 0 0 2
CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 2 0 0 0 2
CDRT15, CDRT4, COX10, FBXW10B, HS3ST3B1, PMP22, TEKT3, TRIM16, TVP23C, TVP23C-CDRT4, ZNF286A 1 0 0 0 1
MT-ATP6 1 0 0 0 1
TEKT3 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance not provided total
OMIM 6 0 0 0 6
GeneReviews 1 0 0 3 4
Baylor Genetics 3 0 0 0 3
Athena Diagnostics Inc 2 1 0 0 3
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 2 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 2
MGZ Medical Genetics Center 0 1 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 1 0 0 0 1
3billion 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 1
Pangenia Genomics, Pangenia Inc. 1 0 0 0 1

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