ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.4564G>A (p.Asp1522Asn) (rs201483724)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718351 SCV000849213 likely benign History of neurodevelopmental disorder 2017-03-10 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)
GeneDx RCV000146841 SCV000529172 likely benign not specified 2016-06-26 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 RCV000146841 SCV000194170 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285211 SCV000456511 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345762 SCV000456512 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing

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