ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.1792T>C (p.Leu598=) (rs28932176)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715994 SCV000846827 benign History of neurodevelopmental disorder 2016-06-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082105 SCV000114051 benign not specified 2013-05-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082105 SCV000194093 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340780 SCV000456449 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383568 SCV000456450 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000231070 SCV000290658 benign Beckwith-Wiedemann syndrome 2017-07-31 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082105 SCV000314048 benign not specified criteria provided, single submitter clinical testing

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