ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6903G>C (p.Gly2301=) (rs11740250)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715355 SCV000846184 benign History of neurodevelopmental disorder 2016-03-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082139 SCV000114085 benign not specified 2014-07-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082139 SCV000194279 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328643 SCV000456529 benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383147 SCV000456530 benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082139 SCV000314078 benign not specified criteria provided, single submitter clinical testing

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