ClinVar Miner

Variants studied for protoporphyria, erythropoietic, 1

Included ClinVar conditions (1):
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
25 10 62 46 39 1 171

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 23 10 59 40 30 1 154
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: 24
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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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 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
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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 1

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