Submissions for variant NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala)

gnomAD frequency: 0.00123  dbSNP: rs11658164

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176578	SCV000228254	uncertain significance	not provided	2015-01-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001084444	SCV000641388	likely benign	Myopathy, proximal, and ophthalmoplegia	2025-01-23	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000176578	SCV001714589	uncertain significance	not provided	2020-11-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000176578	SCV001829643	likely benign	not provided	2020-09-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25617006)
Genetic Services Laboratory, University of Chicago	RCV001818425	SCV002065410	likely benign	not specified	2020-08-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000176578	SCV004141995	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	MYH2: PP3, BS2
PreventionGenetics, part of Exact Sciences	RCV004552983	SCV004729631	likely benign	MYH2-related disorder	2022-02-17	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).