ClinVar Miner

Variants studied for Donnai Barrow syndrome

Coded as:
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
17 2 175 40 24 257

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LRP2 17 2 174 40 24 256
LMBRD1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 169 39 23 231
GeneReviews 12 0 0 0 0 12
OMIM 10 0 0 0 0 10
Fulgent Genetics 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 1 3
Baylor Miraca Genetics Laboratories, 0 0 2 0 0 2
Institute of Human Genetics,Cologne University 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 1

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