ClinVar Miner

Submissions for variant NM_006265.3(RAD21):c.497A>G (p.Asp166Gly)

dbSNP: rs1586268625
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995850 SCV001150230 likely pathogenic Cornelia de Lange syndrome 4 2019-12-06 criteria provided, single submitter clinical testing

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