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 total
19 8 59 46 30 154

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FECH 18 7 59 46 30 153
CLPX 1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 1 1 56 45 28 131
OMIM 17 0 0 0 0 17
Mendelics 1 3 0 0 2 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 1 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 1 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 1
GeneReviews 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 1

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