ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) (rs77618751)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082147 SCV000114093 benign not specified 2014-02-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082147 SCV000194288 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082147 SCV000314083 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000660197 SCV000558217 likely benign Sotos syndrome 1 2020-09-24 criteria provided, single submitter clinical testing
GeneDx RCV001572829 SCV000729333 benign not provided 2019-09-12 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660197 SCV000782195 likely benign Sotos syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717147 SCV000847995 likely benign History of neurodevelopmental disorder 2018-05-04 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572829 SCV001797814 likely benign not provided no assertion criteria provided clinical testing

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