ClinVar Miner

Submissions for variant NM_002905.5(RDH5):c.753C>T (p.Arg251=)

gnomAD frequency: 0.00066  dbSNP: rs141783438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000333522 SCV000336493 uncertain significance not provided 2018-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000333522 SCV001657075 likely benign not provided 2024-10-07 criteria provided, single submitter clinical testing

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