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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 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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