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
38 30 361 251 104 1 664

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 18 6 253 229 70 0 542
Autosomal recessive Robinow syndrome 15 22 84 18 25 0 160
Brachydactyly type B1 10 1 45 11 63 1 130
Brachydactyly type B1; Autosomal recessive Robinow syndrome 0 2 44 27 2 0 75
Inborn genetic diseases 0 0 44 2 0 0 46
not specified 0 0 7 11 19 0 34
ROR2-related condition 0 0 7 21 1 0 29
Short stature 0 1 10 0 0 0 11
Autosomal dominant Robinow syndrome 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 deformation sequence 1; 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: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 13 1 202 205 40 0 461
Illumina Laboratory Services, Illumina 0 0 77 27 63 0 120
GeneDx 3 4 18 24 41 0 90
Fulgent Genetics, Fulgent Genetics 0 2 44 27 2 0 75
Eurofins Ntd Llc (ga) 1 0 45 5 13 0 64
Ambry Genetics 0 0 44 2 0 0 46
PreventionGenetics, part of Exact Sciences 0 0 7 25 11 0 43
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 16 0 0 0 0 24
Genetic Services Laboratory, University of Chicago 0 0 11 3 7 0 21
CeGaT Center for Human Genetics Tuebingen 1 0 7 11 2 0 21
OMIM 15 0 0 0 0 0 15
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 2 10 0 0 0 11
Genome-Nilou Lab 0 0 0 0 5 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 1 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 1 0 0 0 2
CHU Sainte-Justine Research Center, University of Montreal 0 2 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 1 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 0 0 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1 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
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 1 0 0 0 0 0 1
Department of Molecular Biology and Genetics, Istanbul Technical University 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Genetic Metabolism Laboratory, West China Second University Hospital, Sichuan University 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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