ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.1840G>T (p.Val614Leu) (rs3733875)

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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 RCV000715483 SCV000846312 benign History of neurodevelopmental disorder 2016-03-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082107 SCV000114053 benign not specified 2013-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082107 SCV000194097 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291627 SCV000456451 benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344352 SCV000456452 benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082107 SCV000314049 benign not specified criteria provided, single submitter clinical testing

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