ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.4473G>T (p.Ser1491=) (rs150920473)

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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 RCV000716296 SCV000847136 benign History of neurodevelopmental disorder 2016-08-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000242052 SCV000114069 benign not specified 2016-12-19 criteria provided, single submitter clinical testing
GeneDx RCV000242052 SCV000720012 benign not specified 2017-04-13 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 RCV000146836 SCV000194165 uncertain significance Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000460825 SCV000558214 benign Beckwith-Wiedemann syndrome 2017-11-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000242052 SCV000314066 benign not specified criteria provided, single submitter clinical testing

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