ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) (rs80358362)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790730 SCV000228737 pathogenic not provided 2013-08-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000086382 SCV000118528 pathogenic Cornelia de Lange syndrome 1 no assertion criteria provided not provided Converted during submission to Pathogenic.

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