Submissions for variant NM_022455.5(NSD1):c.4473G>T (p.Ser1491=)

gnomAD frequency: 0.00054  dbSNP: rs150920473

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000242052	SCV000114069	benign	not specified	2016-12-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV003231137	SCV000194165	uncertain significance	Sotos syndrome	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000242052	SCV000314066	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003231137	SCV000558214	benign	Sotos syndrome	2022-10-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000242052	SCV000720012	benign	not specified	2017-04-13	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.
Ambry Genetics	RCV002311709	SCV000847136	benign	Inborn genetic diseases	2016-08-03	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	RCV003231137	SCV002055015	benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing