ClinVar Miner

Variants studied for congenital neutropenia-myelofibrosis-nephromegaly syndrome

Included ClinVar conditions (1):
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
2 0 77 57 8 136

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic uncertain significance likely benign benign total
VPS45 2 77 57 8 136

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic uncertain significance likely benign benign total
Invitae 0 57 56 8 121
Natera, Inc. 0 31 3 3 37
Baylor Genetics 0 3 0 0 3
OMIM 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 0 0 1

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