Submissions for variant NM_022455.5(NSD1):c.3000C>T (p.Ser1000=)

gnomAD frequency: 0.00052  dbSNP: rs150854966

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV003231198	SCV000194124	uncertain significance	Sotos syndrome	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000723914	SCV000203154	uncertain significance	not provided	2015-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000723914	SCV000724076	benign	not provided	2020-04-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003231198	SCV001007847	benign	Sotos syndrome	2021-06-07	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003231198	SCV002054997	likely benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433633	SCV002748003	likely benign	Inborn genetic diseases	2018-01-05	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.