ClinVar Miner

Variants studied for Chuvash polycythemia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
238 83 864 389 19 4 1557

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LOC107303340, VHL 126 51 451 217 10 2 832
VHL 105 31 408 172 9 2 712
BRK1, FANCD2, FANCD2OS, VHL 2 0 3 0 0 0 5
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, LOC129936148, LOC129936149, VHL 2 0 2 0 0 0 4
FANCD2, VHL 2 0 0 0 0 0 2
CEP120 0 1 0 0 0 0 1
IRAK2, VHL 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 229 67 838 385 19 0 1538
Fulgent Genetics, Fulgent Genetics 3 5 75 7 0 0 90
Baylor Genetics 5 2 82 0 0 0 89
Department of Pathology and Laboratory Medicine, Sinai Health System 3 4 6 2 1 0 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 3 5 5 1 0 0 14
OMIM 12 0 0 0 0 0 12
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 1 1 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Cellular and Molecular Biology Laboratory, University of Campania Luigi Vanvitelli 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 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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