ClinVar Miner

Variants studied for polycythemia

Included ClinVar conditions (22):
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
362 113 1162 505 175 9 9 2283

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
LOC107303340, VHL 110 40 401 169 10 0 2 709
VHL 95 22 348 157 9 0 1 624
EGLN1 7 1 248 134 58 0 0 441
EPAS1 4 1 65 17 60 0 0 144
HBB, LOC106099062, LOC107133510 65 14 15 2 1 0 0 96
EPOR 0 0 22 9 23 7 5 61
HBB, LOC107133510, LOC110006319 23 6 14 1 0 0 0 44
HBA1, LOC106804613 21 13 0 0 0 0 0 33
HBA2, LOC106804612 16 13 3 0 1 0 0 33
EGLN1, LOC129932769 0 0 16 12 3 0 0 30
EPAS1, LOC129933655 0 0 9 1 3 0 0 13
INSL6, JAK2 1 2 5 1 1 1 1 10
EPAS1, LOC126806210 0 0 3 2 4 0 0 9
SH2B3 2 0 4 0 1 1 0 7
HBB, LOC106099062, LOC107133510, LOC110006319 6 0 0 0 0 0 0 6
BRK1, FANCD2, FANCD2OS, VHL 2 0 3 0 0 0 0 5
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL 2 0 2 0 0 0 0 4
HBA1, HBA2, LOC106804612 2 0 1 0 0 0 0 3
EPO 2 0 0 0 0 0 0 2
EPOR, LOC130063571 0 0 1 0 1 0 0 2
FANCD2, VHL 2 0 0 0 0 0 0 2
ATM 1 0 0 0 0 0 0 1
CEP120 0 1 0 0 0 0 0 1
EPAS1, LOC129933654 0 0 1 0 0 0 0 1
EPOR, LOC130063570 0 0 1 0 0 0 0 1
IRAK2, VHL 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
Labcorp Genetics (formerly Invitae), Labcorp 206 53 904 455 34 0 0 1652
Illumina Laboratory Services, Illumina 0 0 179 38 143 0 0 360
Fulgent Genetics, Fulgent Genetics 83 51 124 12 3 0 0 273
Baylor Genetics 5 2 84 0 0 0 0 91
OMIM 73 0 0 0 0 9 0 81
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 2 7 6 0 0 16
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 5 4 1 0 0 0 15
Neuberg Centre For Genomic Medicine, NCGM 1 0 7 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 5 0 1 0 0 0 0 6
GeneReviews 0 0 0 0 0 0 5 5
Revvity Omics, Revvity 0 0 4 0 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 0 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 1 1 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 3 3
Mendelics 1 0 0 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 1 0 1 0 0 0 0 2
Unidade de Eritropatologia e Metabolismo do Ferro, Centro Hospitalar e Universitário de Coimbra 2 0 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Center for Precision Medicine, Vanderbilt University Medical Center 1 0 0 0 0 0 0 1
Cellular and Molecular Biology Laboratory, University of Campania Luigi Vanvitelli 1 0 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, University of Rochester Medical Center 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 1

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