Submissions for variant NM_022455.5(NSD1):c.7908C>T (p.Leu2636=)

gnomAD frequency: 0.00025  dbSNP: rs143159630

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146954	SCV000194289	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000146954	SCV000228077	benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing
GeneDx	RCV000146954	SCV000513990	benign	not specified	2015-03-11	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001573816	SCV000749508	benign	not provided	2025-01-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316944	SCV000850113	likely benign	Inborn genetic diseases	2016-07-18	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.
Genome-Nilou Lab	RCV003231339	SCV002054891	benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV003231339	SCV002798771	likely benign	Sotos syndrome	2021-07-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573816	SCV004158102	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	NSD1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001573816	SCV005222560	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573816	SCV001800215	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001573816	SCV001954025	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573816	SCV001966301	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952704	SCV004775017	benign	NSD1-related disorder	2022-08-03	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).