ClinVar Miner

Submissions for variant NM_133433.3(NIPBL):c.3856-?_4239+?del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000656700 SCV000747829 uncertain significance Cornelia de Lange syndrome 1 2018-01-12 no assertion criteria provided clinical testing The observed variant c.3856-?4239+?del is not reported in 1000 Genomes and ExAC databases. The in silico prediction of the variant is disease causing by MutationTaster2.

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