ClinVar Miner

Variants studied for Pelger-Huet anomaly

Included ClinVar conditions (2):
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
8 2 5 2 3 19

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LBR 8 2 5 2 3 19

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
OMIM 7 0 0 0 0 7
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 4
Genome-Nilou Lab 0 0 0 0 3 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1
DASA 0 1 0 0 0 1

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