ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) (rs115722008)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715611 SCV000846440 likely benign History of neurodevelopmental disorder 2017-10-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082112 SCV000114058 benign not specified 2013-02-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146788 SCV000194114 uncertain significance Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000545090 SCV000623195 likely benign Beckwith-Wiedemann syndrome 2017-03-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082112 SCV000314054 likely benign not specified criteria provided, single submitter clinical testing

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