ClinVar Miner

Variants in gene FGD4

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
29 5 259 81 67 418

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Charcot-Marie-Tooth disease type 4 14 1 131 37 18 201
Charcot-Marie-Tooth disease, type 4H 12 2 106 18 48 184
not provided 7 2 26 21 15 70
Charcot-Marie-Tooth disease 0 0 21 16 12 49
not specified 0 0 7 16 12 33

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 14 1 125 44 15 199
Illumina Clinical Services Laboratory,Illumina 0 0 109 17 49 175
GeneDx 4 2 15 21 18 60
Molecular Genetics Laboratory,London Health Sciences Centre 0 0 7 16 12 35
Athena Diagnostics Inc 1 0 11 1 11 24
Inherited Neuropathy Consortium 0 0 14 0 0 14
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 7 3 0 12
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 2 4 2 9
OMIM 7 0 0 0 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 2 4 7
GeneReviews 6 0 0 0 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Unit of Genetics and Genomics of Neuromuscular Diseases,Principe Felipe Research Center 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Mendelics 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 1
Service de genetique medicale, Pr. Levy,Hopital de La Timone Enfants, APHM 0 1 0 0 0 1

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