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

Total submissions: 7

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	RCV000459753	SCV000558217	likely benign	Beckwith-Wiedemann syndrome	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000082147	SCV000729333	likely benign	not specified	2017-01-19	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.
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	Subpopulation frequency in support of benign classification;In silico models in agreement (benign)