ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.1970G>A (p.Arg657His)

gnomAD frequency: 0.00001  dbSNP: rs529829552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147384 SCV000194761 uncertain significance Brachydactyly, type B1Robinow syndrome, autosomal recessive 2013-08-28 criteria provided, single submitter clinical testing
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171424 SCV000221621 likely pathogenic not provided criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001353137 SCV001441506 likely pathogenic Autosomal recessive Robinow syndrome no assertion criteria provided research

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