Submissions for variant NM_022455.5(NSD1):c.3021T>C (p.Ala1007=)

gnomAD frequency: 0.00014  dbSNP: rs201312975

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001655758	SCV001724451	benign	not provided	2025-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001655758	SCV001869884	benign	not provided	2019-09-12	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003232370	SCV002054859	benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002439210	SCV002753086	likely benign	Inborn genetic diseases	2018-01-22	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.
CeGaT Center for Human Genetics Tuebingen	RCV001655758	SCV004158076	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	NSD1: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003956173	SCV004766630	likely benign	NSD1-related disorder	2019-07-23	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).