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
37 8 381 171 39 1 565

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 4 19 1 235 74 35 0 362
Charcot-Marie-Tooth disease, demyelinating, type 4F 13 3 99 8 24 0 146
not provided 10 4 60 59 6 1 137
not specified 0 0 13 61 15 0 78
Charcot-Marie-Tooth disease 3 0 40 0 0 0 43
Charcot-Marie-Tooth disease, type I 0 0 7 0 0 0 7
Dejerine-Sottas disease 2 0 4 0 0 0 6
Autosomal recessive Dejerine-Sottas syndrome 5 0 0 0 0 0 5
Distal spinal muscular atrophy 0 0 4 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: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 19 1 230 124 35 0 409
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 18 5 12 0 40
Inherited Neuropathy Consortium 3 0 30 0 1 0 34
Genesis Genome Database 0 0 23 0 0 0 23
CeGaT Praxis fuer Humangenetik Tuebingen 3 1 12 1 0 0 17
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 7 2 2 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 4 4 0 12
OMIM 11 0 0 0 0 0 11
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
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Claritas Genomics 0 0 1 0 0 0 1
Institute of Human Genetics,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
Division of Genomic Diagnostics,The 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 Genetic Testing 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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