ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.4564G>T (p.Asp1522Tyr) (rs201483724)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146842 SCV000194171 uncertain significance Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000340723 SCV000338537 uncertain significance not provided 2016-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719965 SCV000850839 likely benign History of neurodevelopmental disorder 2017-12-06 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance);Subpopulation frequency in support of benign classification
Invitae RCV000340723 SCV001026484 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing

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