ClinVar Miner

Variants studied for Chuvash polycythemia

Included ClinVar conditions (3):
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 not provided total
207 59 740 325 19 3 1330

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LOC107303340, VHL 110 38 395 169 10 2 706
VHL 91 21 340 156 9 1 613
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

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 198 52 728 323 19 0 1320
Baylor Genetics 5 3 53 0 0 0 61
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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