ClinVar Miner

Variants studied for familial polycythemia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
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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
323 66 1124 504 175 9 8 2169

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects not provided total
LOC107303340, VHL 110 37 397 169 10 0 2 707
VHL 94 21 345 156 9 0 1 621
EGLN1 7 1 245 134 58 0 0 438
EPAS1 4 1 63 17 60 0 0 142
EPOR 0 0 22 9 23 7 5 61
HBB, LOC106099062, LOC107133510 46 3 6 2 1 0 0 58
EGLN1, LOC129932769 0 0 16 12 3 0 0 30
HBB, LOC107133510, LOC110006319 18 0 5 1 0 0 0 24
HBA1, LOC106804613 16 2 0 0 0 0 0 18
EPAS1, LOC129933655 0 0 9 1 3 0 0 13
HBA2, LOC106804612 9 1 1 0 1 0 0 12
EPAS1, LOC126806210 0 0 2 2 4 0 0 8
HBB, LOC106099062, LOC107133510, LOC110006319 6 0 0 0 0 0 0 6
SH2B3 2 0 2 0 1 1 0 6
BRK1, FANCD2, FANCD2OS, VHL 2 0 3 0 0 0 0 5
INSL6, JAK2 1 0 2 1 1 1 0 5
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL 2 0 2 0 0 0 0 4
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
HBA1, HBA2, LOC106804612 1 0 1 0 0 0 0 2
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: 25
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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 45 6 56 11 3 0 0 121
Baylor Genetics 5 2 83 0 0 0 0 90
OMIM 72 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 3 2 3 0 0 0 0 8
Neuberg Centre For Genomic Medicine, NCGM 1 0 6 0 0 0 0 7
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
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
Genome-Nilou Lab 0 0 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 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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