ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.1749G>A (p.Glu583=) (rs3733874)

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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 RCV000715470 SCV000846299 benign History of neurodevelopmental disorder 2016-03-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082103 SCV000114049 benign not specified 2013-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082103 SCV000194092 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379961 SCV000456447 benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283379 SCV000456448 benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082103 SCV000314047 benign not specified criteria provided, single submitter clinical testing

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