ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3393C>T (p.Asn1131=) (rs150296373)

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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 RCV000717116 SCV000847962 likely benign History of neurodevelopmental disorder 2016-10-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723570 SCV000114066 uncertain significance not provided 2012-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000082120 SCV000527128 likely benign not specified 2016-05-04 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 RCV000146810 SCV000194137 uncertain significance Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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