Submissions for variant NM_002471.4(MYH6):c.4320T>A (p.Ala1440=)

gnomAD frequency: 0.00189  dbSNP: rs145566711

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037502	SCV000061160	benign	not specified	2012-07-06	criteria provided, single submitter	clinical testing	Ala1440Ala in Exon 30 of MYH6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.5% (18/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs145566711).
Invitae	RCV000234474	SCV000287425	benign	Hypertrophic cardiomyopathy 14	2024-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001703883	SCV000723455	likely benign	not provided	2020-12-08	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770435	SCV000901878	likely benign	Cardiomyopathy	2016-06-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001703883	SCV002050012	likely benign	not provided	2021-02-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037502	SCV001922365	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001703883	SCV001967960	likely benign	not provided		no assertion criteria provided	clinical testing