ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter) (rs1554020997)

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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 RCV000503300 SCV000596023 pathogenic Cornelia de Lange syndrome 1 2016-11-30 criteria provided, single submitter clinical testing

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