Submissions for variant NM_016599.5(MYOZ2):c.76+10A>G

gnomAD frequency: 0.00012  dbSNP: rs372006344

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039015	SCV000062693	likely benign	not specified	2012-06-28	criteria provided, single submitter	clinical testing	76+10A>G in intron 2 of MYOZ2: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. It has been identified in 5/8595 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). 76+ 10A>G in intron 02 of MYOZ2 (allele frequency = 5/8595) **
Labcorp Genetics (formerly Invitae), Labcorp	RCV000264108	SCV000623864	likely benign	Hypertrophic cardiomyopathy	2023-10-14	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039015	SCV001920635	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723621	SCV001951629	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003914954	SCV004731980	likely benign	MYOZ2-related disorder	2019-10-08	no assertion criteria provided	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).