ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) (rs61748200)

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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 RCV000082497 SCV000114539 benign not specified 2018-07-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082497 SCV000193968 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082497 SCV000315694 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330558 SCV000457299 benign Cornelia de Lange Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715435 SCV000846264 benign History of neurodevelopmental disorder 2016-02-15 criteria provided, single submitter clinical testing

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