ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs) (rs797045778)

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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 RCV000194372 SCV000248236 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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