ClinVar Miner

Variants in gene ROR2

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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 not provided total
24 25 150 79 70 1 272

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Robinow syndrome, autosomal recessive 13 18 80 17 24 0 149
not provided 4 5 66 54 19 0 139
Brachydactyly type B1 8 1 44 11 62 1 126
not specified 0 0 2 10 19 0 28
Short stature 0 1 10 0 0 0 11
Robinow syndrome, autosomal dominant 1 0 0 0 1 2 0 3
Brachydactyly 0 0 0 1 1 0 2
Brachydactyly, type B1Robinow syndrome, autosomal recessive 0 0 2 0 0 0 2
Fetal akinesia sequence; Arthrogryposis multiplex congenita 0 2 0 0 0 0 2
ROR2-Related Disorders 0 0 1 0 0 0 1
Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals 1 0 0 0 0 0 1
Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 77 27 63 0 120
Invitae 1 1 23 53 19 0 97
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 45 5 13 0 64
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 16 0 0 0 0 24
Genetic Services Laboratory, University of Chicago 0 0 8 2 7 0 17
OMIM 15 0 0 0 0 0 15
PreventionGenetics, PreventionGenetics 0 0 0 4 10 0 14
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 10 0 0 0 11
GeneDx 1 3 1 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 0 2
Cirak Lab,University Hospital Cologne 0 2 0 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 0 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Exeter Molecular Genetics Laboratory 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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