Submissions for variant NM_002471.4(MYH6):c.3297G>A (p.Glu1099=)

gnomAD frequency: 0.00090  dbSNP: rs144957142

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037472	SCV000061130	likely benign	not specified	2015-10-30	criteria provided, single submitter	clinical testing	p.Glu1099Glu in exon 25 of MYH6: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.3% (28/10402) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs144957142).
GeneDx	RCV001703882	SCV000515862	likely benign	not provided	2020-12-03	criteria provided, single submitter	clinical testing
Invitae	RCV000460698	SCV000557902	benign	Hypertrophic cardiomyopathy 14	2024-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621424	SCV000736979	likely benign	Cardiovascular phenotype	2015-08-12	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037472	SCV001361611	benign	not specified	2019-12-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001703882	SCV004184343	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	MYH6: BP4, BP7