ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr) (rs559617787)

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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 RCV000716852 SCV000847696 likely benign History of neurodevelopmental disorder 2016-08-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification,Other data supporting benign classification
GeneDx RCV000424943 SCV000513983 likely benign not specified 2015-03-18 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 RCV000146768 SCV000194090 uncertain significance Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260882 SCV000456445 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323035 SCV000456446 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000628591 SCV000749493 likely benign Beckwith-Wiedemann syndrome 2017-12-18 criteria provided, single submitter clinical testing

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