ClinVar Miner

Variants in gene PRX

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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
48 18 553 234 43 1 803

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 4 26 2 377 142 35 0 580
Charcot-Marie-Tooth disease 8 5 120 62 16 0 210
Charcot-Marie-Tooth disease, demyelinating, type 4F 15 5 104 8 24 0 155
not provided 11 5 67 57 6 1 146
not specified 0 0 11 60 17 0 77
none provided 2 0 7 1 5 0 15
Charcot-Marie-Tooth disease, type I 0 0 7 0 0 0 7
Dejerine-Sottas disease 2 0 5 0 0 0 7
Autosomal recessive Dejerine-Sottas syndrome 5 0 0 0 0 0 5
Distal spinal muscular atrophy 0 0 4 0 0 0 4
Toe walking 0 1 3 0 0 0 4
Dejerine-Sottas disease; Charcot-Marie-Tooth disease, demyelinating, type 4F 0 0 3 0 0 0 3
Peripheral neuropathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 2 373 172 35 0 608
Molecular Genetics Laboratory,London Health Sciences Centre 5 5 82 62 16 0 170
Illumina Clinical Services Laboratory,Illumina 0 0 99 8 23 0 130
GeneDx 4 2 36 55 12 0 109
Athena Diagnostics Inc 4 1 23 3 17 0 48
Inherited Neuropathy Consortium 3 0 30 0 1 0 34
Genesis Genome Database 0 0 23 0 0 0 23
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 8 4 7 0 21
CeGaT Praxis fuer Humangenetik Tuebingen 3 1 15 1 0 0 20
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 7 2 2 0 13
OMIM 11 0 0 0 0 0 11
Baylor Genetics 3 1 6 0 0 0 10
Genetic Services Laboratory, University of Chicago 0 0 0 6 0 0 6
GeneReviews 5 0 0 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 2 0 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 3 0 0 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 1 1 2 0 0 0 4
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 1 3 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
CMT Laboratory,Bogazici University 2 0 0 0 0 0 2
Claritas Genomics 0 0 1 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
PreventionGenetics, PreventionGenetics 0 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 1 1
Centre for Translational Omics - GOSgene,University College London 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 0 0 1

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