ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter) (rs80358370)

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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 RCV000086390 SCV000194039 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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