Submissions for variant NM_022455.5(NSD1):c.2169C>T (p.Thr723=)

gnomAD frequency: 0.00453  dbSNP: rs11948062

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146780	SCV000194105	likely benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000146780	SCV000314051	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001618298	SCV000749483	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312968	SCV000847370	benign	Inborn genetic diseases	2016-08-03	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.
GeneDx	RCV001618298	SCV001844305	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003231185	SCV002054852	benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV003231185	SCV002802782	benign	Sotos syndrome	2021-09-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003231185	SCV004564814	benign	Sotos syndrome	2023-09-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001618298	SCV005222545	likely benign	not provided		criteria provided, single submitter	not provided