ClinVar Miner

Variants studied for autosomal recessive Robinow syndrome

Included ClinVar conditions (2):
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
15 24 125 42 26 225

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 15 23 125 42 26 224
ROR2, SPTLC1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 76 17 24 117
Fulgent Genetics, Fulgent Genetics 0 2 44 27 2 75
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 17 0 0 0 25
OMIM 7 0 0 0 0 7
Genome-Nilou Lab 0 0 0 0 5 5
Genetic Services Laboratory, University of Chicago 0 0 4 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 1 0 0 2
CHU Sainte-Justine Research Center, University of Montreal 0 2 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 1 0 0 0 2
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, Sultan Qaboos University 2 0 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1 0 2
Exeter Molecular Genetics Laboratory 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 1
Indian Institute of Integrative Medicine, Council of Scientific and Industrial Research 1 0 0 0 0 1
Department of Molecular Biology and Genetics, Istanbul Technical University 1 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Genetic Metabolism Laboratory, West China Second University Hospital, Sichuan University 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 1

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