ClinVar Miner

Variants studied for Bruck syndrome

Included ClinVar conditions (4):
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
12 0 27 4 3 46

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic uncertain significance likely benign benign total
PLOD2 4 26 4 3 37
FKBP10 8 1 0 0 9

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 25 4 3 32
OMIM 12 0 0 0 12
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 2
Institute of Human Genetics,Cologne University 0 1 0 0 1
Fulgent Genetics 0 1 0 0 1

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