ClinVar Miner

Variants studied for Chuvash polycythemia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
211 59 747 325 19 3 1340

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LOC107303340, VHL 110 38 397 169 10 2 707
VHL 94 21 345 156 9 1 621
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
IRAK2, VHL 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 202 52 730 323 19 0 1326
Baylor Genetics 5 3 82 0 0 0 90
Fulgent Genetics, Fulgent Genetics 2 1 40 6 0 0 49
OMIM 12 0 0 0 0 0 12
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 2 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 1 0 1 1 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
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

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