ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.1482C>T (p.Cys494=) (rs1363405)

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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 RCV000715214 SCV000846042 benign History of neurodevelopmental disorder 2016-03-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082100 SCV000114046 benign not specified 2013-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082100 SCV000194087 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319604 SCV000456443 benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371717 SCV000456444 benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082100 SCV000314045 benign not specified criteria provided, single submitter clinical testing

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