ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.4561-9T>A (rs79924167)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082491 SCV000114533 benign not specified 2013-01-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082491 SCV000193915 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082491 SCV000315690 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302931 SCV000457293 likely benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000870940 SCV001012516 benign not provided 2019-02-06 criteria provided, single submitter clinical testing

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