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 total
132 20 499 115 7 765

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 total
LOC107303340, VHL 67 12 268 43 1 383
VHL 59 8 226 72 6 371
BRK1, FANCD2, FANCD2OS, VHL 2 0 3 0 0 5
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 2 0 2 0 0 4
FANCD2, VHL 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 123 19 498 115 7 762
OMIM 12 0 0 0 0 12
Fulgent Genetics,Fulgent Genetics 1 1 5 0 0 7
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
Cellular and Molecular Biology Laboratory,University of Campania Luigi Vanvitelli 1 0 0 0 0 1

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