ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.1574G>A (p.Arg525Gln) (rs138405802)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718671 SCV000849535 likely benign History of neurodevelopmental disorder 2017-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Center for Human Genetics, Inc RCV000660181 SCV000782175 likely benign Sotos syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000607872 SCV000728998 likely benign not specified 2018-01-10 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.

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