Submissions for variant NM_022455.5(NSD1):c.3150C>T (p.Thr1050=)

gnomAD frequency: 0.00088  dbSNP: rs144257298

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082117	SCV000114063	uncertain significance	not provided	2012-12-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313819	SCV000847958	likely benign	Inborn genetic diseases	2016-10-07	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003231131	SCV001001872	benign	Sotos syndrome	2022-10-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000082117	SCV001942666	benign	not provided	2021-03-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003231131	SCV002055001	likely benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000082117	SCV005075716	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	NSD1: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003945026	SCV004763203	likely benign	NSD1-related disorder	2023-09-14	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).