Submissions for variant NM_144573.4(NEXN):c.1252-10T>G

gnomAD frequency: 0.00088  dbSNP: rs201019553

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155650	SCV000205359	likely benign	not specified	2016-08-23	criteria provided, single submitter	clinical testing	c.1252-10T>G in intron 10 of NEXN: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. I t has been identified in 0.3% (28/8484) of African chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201019553).
GeneDx	RCV001704131	SCV000236130	likely benign	not provided	2020-01-29	criteria provided, single submitter	clinical testing
Invitae	RCV000862187	SCV001002653	benign	Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20	2024-01-24	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149948	SCV003837805	benign	Cardiomyopathy	2021-10-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975216	SCV004787494	likely benign	NEXN-related condition	2022-02-24	criteria provided, single submitter	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).