ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.904C>T (p.Arg302Cys)

gnomAD frequency: 0.00001  dbSNP: rs767372181
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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 RCV000193988 SCV000248726 uncertain significance not specified 2013-08-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503756 SCV002816700 uncertain significance Brachydactyly type B1; Autosomal recessive Robinow syndrome 2021-12-16 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001353133 SCV001441501 likely pathogenic Autosomal recessive Robinow syndrome no assertion criteria provided research

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