Submissions for variant NM_022455.5(NSD1):c.2295C>T (p.Asn765=)

gnomAD frequency: 0.00196  dbSNP: rs146767413

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146783	SCV000194109	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000146783	SCV000345339	likely benign	not specified	2016-09-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001697075	SCV000714942	benign	not provided	2019-06-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003231187	SCV002054855	benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001697075	SCV002418054	benign	not provided	2025-01-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453470	SCV002738116	likely benign	Inborn genetic diseases	2017-06-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Breakthrough Genomics, Breakthrough Genomics	RCV001697075	SCV005222546	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003891677	SCV000314053	benign	NSD1-related disorder	2020-03-24	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).