Submissions for variant NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser)

gnomAD frequency: 0.00188  dbSNP: rs77618751

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082147	SCV000114093	benign	not specified	2014-02-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082147	SCV000194288	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891571	SCV000314083	benign	NSD1-related disorder	2020-02-18	criteria provided, single submitter	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).
Invitae	RCV003231154	SCV000558217	likely benign	Sotos syndrome	2022-10-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001572829	SCV000729333	benign	not provided	2019-09-12	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV003231154	SCV000782195	likely benign	Sotos syndrome	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313822	SCV000847995	likely benign	Inborn genetic diseases	2018-05-04	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	RCV003231154	SCV002054890	benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001572829	SCV002586097	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	NSD1: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV003231154	SCV002813187	benign	Sotos syndrome	2021-08-12	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572829	SCV001797814	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572829	SCV001971573	likely benign	not provided		no assertion criteria provided	clinical testing