Submissions for variant NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met)

gnomAD frequency: 0.00206  dbSNP: rs144900277

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146839	SCV000194168	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000146839	SCV000225412	benign	not specified	2014-05-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000146839	SCV000314068	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000146839	SCV000714897	benign	not specified	2017-02-20	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	RCV003231235	SCV000782181	benign	Sotos syndrome	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312653	SCV000846633	benign	Inborn genetic diseases	2017-05-31	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab	RCV003231235	SCV002054872	benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Invitae	RCV003231235	SCV002425787	benign	Sotos syndrome	2022-11-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV003231235	SCV002798729	benign	Sotos syndrome	2022-05-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003422034	SCV004158088	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	NSD1: BP4, BS1