Submissions for variant NM_022455.5(NSD1):c.3705T>C (p.Asn1235=)

gnomAD frequency: 0.10490  dbSNP: rs28932181

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082122	SCV000114068	benign	not specified	2014-06-23	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000082122	SCV000194143	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082122	SCV000314062	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311708	SCV000846107	benign	Inborn genetic diseases	2016-04-18	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001647064	SCV001717756	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001647064	SCV001856379	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003231136	SCV002054867	benign	Sotos syndrome	2021-07-15	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000082122	SCV001951646	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082122	SCV001964664	benign	not specified		no assertion criteria provided	clinical testing