ClinVar Miner

Variants in gene PRX

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
29 3 245 106 32 1 360

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease type 4 9 0 181 64 30 0 263
not specified 0 0 13 60 15 0 77
not provided 8 2 49 3 3 1 65
Charcot-Marie-Tooth disease 3 0 28 0 0 0 31
Charcot-Marie-Tooth disease, demyelinating, type 4F 10 1 1 0 7 0 19
Dejerine-Sottas disease 5 0 4 0 0 0 9
Autosomal recessive Dejerine-Sottas syndrome 5 0 0 0 0 0 5
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: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 9 0 136 53 26 0 224
GeneDx 4 1 36 51 9 0 101
Illumina Clinical Services Laboratory,Illumina 0 0 57 11 5 0 73
Inherited Neuropathy Consortium 3 0 31 0 1 0 35
Athena Diagnostics Inc 4 0 9 5 12 0 30
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 7 2 3 0 14
OMIM 11 0 0 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 1 0 0 10
Genetic Services Laboratory, University of Chicago 0 0 0 6 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 1 1 0 6
GeneReviews 5 0 0 0 0 0 5
Fulgent Genetics 0 0 2 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Baylor Miraca Genetics Laboratories, 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 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.