ClinVar Miner

Submissions for variant NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg)

gnomAD frequency: 0.00003  dbSNP: rs142386992
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180607 SCV000233081 uncertain significance not provided 2015-05-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000660425 SCV000782512 uncertain significance Autosomal recessive Robinow syndrome 2016-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503700 SCV002816096 uncertain significance Brachydactyly type B1; Autosomal recessive Robinow syndrome 2021-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000180607 SCV003486487 likely benign not provided 2024-10-16 criteria provided, single submitter clinical testing

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