Submissions for variant NM_000257.4(MYH7):c.4353+10G>A

gnomAD frequency: 0.00274  dbSNP: rs202205780

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035904	SCV000059555	benign	not specified	2012-03-02	criteria provided, single submitter	clinical testing	4353+10G>A in intron 31 of MYH7: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (27/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga)	RCV000035904	SCV000229297	benign	not specified	2015-01-23	criteria provided, single submitter	clinical testing
Invitae	RCV001086618	SCV000252662	benign	Hypertrophic cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000035904	SCV000303235	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712358	SCV000842832	likely benign	not provided	2018-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000712358	SCV001848902	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000712358	SCV001739795	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035904	SCV001925564	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000035904	SCV001928783	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000712358	SCV001956795	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000035904	SCV001968997	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000712358	SCV002035857	likely benign	not provided		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV001086618	SCV003803697	benign	Hypertrophic cardiomyopathy	2022-09-27	no assertion criteria provided	clinical testing