Submissions for variant NM_022455.5(NSD1):c.6829T>C (p.Leu2277=)

gnomAD frequency: 0.84910  dbSNP: rs28580074

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082138	SCV000114084	benign	not specified	2014-07-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082138	SCV000314077	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311712	SCV000846072	benign	Inborn genetic diseases	2016-03-11	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003231147	SCV001728674	benign	Sotos syndrome	2022-10-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003231147	SCV002029456	benign	Sotos syndrome	2021-09-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082138	SCV000194278	likely benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000082138	SCV001744710	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082138	SCV001955893	benign	not specified		no assertion criteria provided	clinical testing