ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.4520C>T (p.Thr1507Met) (rs144900277)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715802 SCV000846633 benign History of neurodevelopmental disorder 2017-05-31 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
Center for Human Genetics, Inc RCV000660187 SCV000782181 benign Sotos syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000146839 SCV000225412 benign not specified 2014-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000146839 SCV000714897 benign not specified 2017-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000146839 SCV000194168 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000473648 SCV000558219 benign Beckwith-Wiedemann syndrome 2017-12-28 criteria provided, single submitter clinical testing
PreventionGenetics RCV000146839 SCV000314068 benign not specified criteria provided, single submitter clinical testing

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