Submissions for variant NM_144573.4(NEXN):c.688-10G>A

gnomAD frequency: 0.00011  dbSNP: rs370574269

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000605590	SCV000710920	likely benign	not specified	2016-11-17	criteria provided, single submitter	clinical testing	c.688-10G>A in intron 7 of NEXN: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It has been identified in 4/9752 of African chromosomes by the Exome Aggregation Co nsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs370574269).
GeneDx	RCV000229736	SCV000715704	likely benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Invitae	RCV001493385	SCV001698010	likely benign	Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20	2023-10-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003939892	SCV004754788	likely benign	NEXN-related condition	2019-04-25	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000229736	SCV001742872	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000229736	SCV001969086	likely benign	not provided		no assertion criteria provided	clinical testing