ClinVar Miner

Variants studied for autosomal recessive Robinow syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
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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
13 19 80 17 24 150

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
ROR2 13 18 80 17 24 149
ROR2, SPTLC1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 76 17 24 117
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 17 0 0 0 25
OMIM 7 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 4 0 0 4
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 2
Exeter Molecular Genetics Laboratory 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1

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