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 not provided total
48 15 403 257 113 9 789

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 4 37 4 225 189 21 0 476
Charcot-Marie-Tooth disease type 4H 11 6 134 22 51 8 214
not provided 8 5 52 52 87 1 197
Inborn genetic diseases 1 0 75 27 0 0 103
Charcot-Marie-Tooth disease 0 0 24 17 12 0 53
not specified 0 0 11 17 16 0 40
FGD4-related disorder 0 0 0 7 7 0 14

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 37 4 219 188 18 0 466
Illumina Laboratory Services, Illumina 0 0 109 17 49 0 175
GeneDx 4 2 23 49 68 0 146
Ambry Genetics 1 0 75 27 0 0 103
Breakthrough Genomics, Breakthrough Genomics 0 0 4 14 44 0 62
Molecular Genetics Laboratory, London Health Sciences Centre 0 0 7 16 12 0 35
Athena Diagnostics 1 1 15 4 13 0 34
CeGaT Center for Human Genetics Tuebingen 3 0 8 10 2 0 23
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 17 0 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 7 4 0 16
PreventionGenetics, part of Exact Sciences 0 0 0 7 7 0 14
Inherited Neuropathy Consortium 0 0 14 0 0 0 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 9 2 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 0 2 9 0 0 0 11
OMIM 7 0 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 5 2 0 0 7
Eurofins Ntd Llc (ga) 0 0 1 2 4 0 7
GeneReviews 0 0 0 0 0 6 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Clinical Genetics, Academic Medical Center 0 0 1 0 4 0 5
Revvity Omics, Revvity 0 0 4 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 1 1 1 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 0 0 0 2
Unit of Genetics and Genomics of Neuromuscular Diseases, Principe Felipe Research Center 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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