ClinVar Miner

Variants in gene EPOR

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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 affects not provided total
2 4 71 29 30 7 5 133

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Primary familial polycythemia due to EPO receptor mutation 0 1 23 10 23 7 5 63
not provided 2 2 8 20 21 0 0 47
Inborn genetic diseases 0 0 38 2 0 0 0 40
not specified 0 0 2 1 0 0 0 3
EPOR-related disorder 0 0 0 1 1 0 0 2
Familial erythrocytosis 0 0 1 1 0 0 0 2
Acute megakaryoblastic leukemia without down syndrome 0 1 0 0 0 0 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Illumina Laboratory Services, Illumina 0 0 20 8 23 0 0 51
Ambry Genetics 0 0 38 2 0 0 0 40
Labcorp Genetics (formerly Invitae), Labcorp 1 0 4 9 14 0 0 28
Breakthrough Genomics, Breakthrough Genomics 0 0 0 3 13 0 0 16
CeGaT Center for Human Genetics Tuebingen 0 0 1 8 3 0 0 12
OMIM 0 0 0 0 0 7 0 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 5 1 0 0 7
GeneDx 0 2 0 0 4 0 0 6
GeneReviews 0 0 0 0 0 0 5 5
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 0 3
PreventionGenetics, part of Exact Sciences 0 0 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 1 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH 0 1 0 0 0 0 0 1

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