ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2169C>T (p.Thr723=) (rs11948062)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716529 SCV000847370 benign History of neurodevelopmental disorder 2016-08-03 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
Genetic Services Laboratory, University of Chicago RCV000146780 SCV000194105 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000628581 SCV000749483 benign Beckwith-Wiedemann syndrome 2017-12-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000146780 SCV000314051 likely benign not specified criteria provided, single submitter clinical testing

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