ClinVar Miner

Variants studied for Protoporphyria, erythropoietic, 1

Coded as:
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
23 8 60 46 39 1 167

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FECH 21 8 57 40 30 1 150
ABCB6 0 0 0 0 8 0 8
FECH, LOC130062554 0 0 2 3 0 0 5
FECH, LOC129390998 0 0 0 2 0 0 2
FECH, LOC130062555 1 0 1 1 1 0 1
FECH, LOC130062560 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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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 16 0 0 0 0 0 16
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 4 0 4
Baylor Genetics 1 0 1 0 0 0 2
Revvity Omics, Revvity Omics 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1

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