ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3088T>C (p.Leu1030=) (rs61756006)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723654 SCV000114062 uncertain significance not provided 2013-08-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000254116 SCV000314057 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000719605 SCV000850474 likely benign History of neurodevelopmental disorder 2017-02-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000723654 SCV001005521 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing

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