ClinVar Miner

Variants in gene FECH

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
18 7 58 48 32 154

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Protoporphyria, erythropoietic, 1 18 6 56 45 30 150
not specified 0 0 1 0 4 5
not provided 0 0 0 2 1 3
Autosomal erythropoietic protoporphyria 1 1 0 0 0 2
Jaundice; Erythema 0 0 1 1 0 2
Jaundice; Erythema; Increased urinary porphobilinogen 0 0 1 1 0 2

Submitter and significance breakdown #

Total submitters: 11
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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 16 0 0 0 0 16
Mendelics 1 3 0 0 2 6
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 1 0 1 4
PreventionGenetics,PreventionGenetics 0 0 0 0 3 3
Invitae 0 0 0 2 1 3
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: University of Minnesota 1 1 0 0 0 2
GeneReviews 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1

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