Submissions for variant NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser)

gnomAD frequency: 0.00445  dbSNP: rs116520623

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146769	SCV000194091	likely benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000146769	SCV000314046	likely benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001709497	SCV000749482	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312967	SCV000847368	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	RCV001709497	SCV001936682	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003231174	SCV002054844	benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV003231174	SCV002799847	likely benign	Sotos syndrome	2021-08-17	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003231174	SCV004564661	benign	Sotos syndrome	2023-09-18	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001709497	SCV005222543	likely benign	not provided		criteria provided, single submitter	not provided