ClinVar Miner

Variants in gene FECH

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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 pathogenic, low penetrance not provided total
51 14 104 85 61 1 1 297

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
not provided 40 7 38 47 38 1 0 166
Protoporphyria, erythropoietic, 1 21 8 57 40 30 0 1 150
Inborn genetic diseases 0 0 8 2 0 0 0 10
not specified 0 0 3 0 3 0 0 6
Autosomal erythropoietic protoporphyria 2 0 0 0 0 0 0 2
FECH-related condition 1 0 1 0 0 0 0 2
Increased erythrocyte protoporphyrin concentration 1 0 0 0 0 0 0 1
Jaundice; Erythema 0 0 1 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Invitae 37 7 32 46 12 1 0 135
Illumina Laboratory Services, Illumina 1 1 54 40 28 0 0 124
GeneDx 1 0 0 0 29 0 0 30
OMIM 15 0 0 0 0 0 0 15
Mayo Clinic Laboratories, Mayo Clinic 4 2 8 0 0 0 0 14
Ambry Genetics 0 0 8 2 0 0 0 10
Mendelics 1 3 0 0 1 0 0 5
Preventiongenetics, part of Exact Sciences 1 0 1 0 2 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 3 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 1 2 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 3 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 1 0 1 0 0 3
CeGaT Center for Human Genetics Tuebingen 2 0 0 0 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Baylor Genetics 1 0 1 0 0 0 0 2
Revvity Omics, Revvity Omics 2 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 1 1 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 0 0 0 0 0 0 2
MGZ Medical Genetics Center 1 0 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 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 0 1

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