ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5482C>T (p.Arg1828Ter) (rs62654864)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146647 SCV000193956 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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