Submissions for variant NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)

dbSNP: rs200852418

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035890	SCV000059541	likely benign	not specified	2012-06-11	criteria provided, single submitter	clinical testing	Arg1396Arg in exon 31 of MYH7: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Arg1396Arg in exon 31 of MYH7 (allele freque ncy = n/a)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000629162	SCV000750078	likely benign	Hypertrophic cardiomyopathy	2023-12-14	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001525526	SCV001735665	likely benign	Cardiomyopathy	2020-10-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001540224	SCV001758084	benign	not provided	2015-08-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326725	SCV002628510	likely benign	Cardiovascular phenotype	2020-04-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002477075	SCV002795974	likely benign	Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy	2021-07-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534747	SCV004714927	likely benign	MYH7-related disorder	2020-11-18	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).