ClinVar Miner

Variants in gene PPOX

See also:
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 23 149 53 18 2 267

Condition and significance breakdown #

Total conditions: 12
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 31 14 90 48 18 0 194
Variegate porphyria 13 7 34 4 3 1 57
Inborn genetic diseases 0 0 33 2 0 0 35
Variegate porphyria, childhood-onset 12 0 0 0 0 0 12
PPOX-related disorder 0 0 1 2 0 0 3
not specified 0 0 0 2 1 0 3
See cases 1 1 0 0 0 0 2
Variegate porphyria; Variegate porphyria, childhood-onset 0 0 2 0 0 0 2
Abnormal blistering of the skin; Porphyrinuria; Abdominal colic 1 0 0 0 0 0 1
Abnormality of metabolism/homeostasis 0 1 0 0 0 0 1
Acute intermittent porphyria 0 0 0 0 0 1 1
Migraine; Constipation; Abnormal blistering of the skin; Abnormal urinary color 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 31 7 78 45 12 0 173
Ambry Genetics 0 0 33 2 0 0 35
Illumina Laboratory Services, Illumina 0 0 27 3 2 0 32
GeneDx 1 4 9 0 7 0 21
OMIM 18 0 0 0 0 0 18
Mayo Clinic Laboratories, Mayo Clinic 5 3 4 0 0 0 12
Breakthrough Genomics, Breakthrough Genomics 0 0 0 2 6 0 8
CeGaT Center for Human Genetics Tuebingen 2 0 1 0 2 0 5
Revvity Omics, Revvity 0 2 2 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 4
PreventionGenetics, part of Exact Sciences 0 0 1 2 0 0 3
Clinical Genetics, Academic Medical Center 0 0 0 1 1 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 2 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 1 0 2
Department of Human Genetics, Hannover Medical School 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 0 1 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 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.