ClinVar Miner

Variants studied for autosomal erythropoietic protoporphyria

Included ClinVar conditions (3):
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
27 12 62 46 40 1 175

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FECH 24 10 59 40 30 1 155
ABCB6 0 0 0 0 8 0 8
FECH, LOC130062554 0 0 2 3 0 0 5
CLPX 1 1 0 0 1 0 2
FECH, LOC129390998 0 0 0 2 0 0 2
FECH, LOC130062560 1 1 0 0 0 0 2
FECH, LOC130062555 1 0 1 1 1 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 1 56 45 28 0 131
OMIM 17 0 0 0 0 0 17
Phillips Lab, Hematology, University of Utah 0 0 0 0 8 0 8
Mendelics 1 3 0 0 2 0 6
Genome-Nilou Lab 0 0 0 0 5 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Department of Human Genetics, Hannover Medical School 1 2 0 0 0 0 3
Baylor Genetics 1 0 1 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
Revvity Omics, Revvity 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
Department of Surgical Oncology, and Genetic Counseling Unit of Clinical Genomics Center, Nagasaki University Graduate School of Biomedical Sciences 1 0 0 0 0 0 1

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