Submissions for variant NM_002471.4(MYH6):c.5514G>T (p.Ser1838=)

gnomAD frequency: 0.00010  dbSNP: rs727503232

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000151211	SCV000199047	likely benign	not specified	2013-04-20	criteria provided, single submitter	clinical testing	Ser1838Ser in exon 36 of MYH6: 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. Ser1838Ser in exon 36 of MYH6 (allele frequ ency = n/a)
Invitae	RCV001087865	SCV000768887	likely benign	Hypertrophic cardiomyopathy 14	2024-01-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000829203	SCV000970919	likely benign	not provided	2019-12-26	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001171174	SCV001333866	likely benign	Cardiomyopathy	2018-04-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345466	SCV002651105	likely benign	Cardiovascular phenotype	2020-03-25	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV000829203	SCV004129058	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	MYH6: BP4, BP7