Submissions for variant NM_002471.4(MYH6):c.5400C>T (p.Asp1800=)

gnomAD frequency: 0.00141  dbSNP: rs144329079

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037531	SCV000061189	benign	not specified	2012-02-07	criteria provided, single submitter	clinical testing	Benign based on high population frequency (17/3755 chromosomes).
Eurofins Ntd Llc (ga)	RCV000724395	SCV000229825	uncertain significance	not provided	2014-12-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000724395	SCV000534032	likely benign	not provided	2020-12-15	criteria provided, single submitter	clinical testing
Invitae	RCV001087566	SCV000557930	benign	Hypertrophic cardiomyopathy 14	2023-11-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724395	SCV004699084	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	MYH6: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003934912	SCV004753192	benign	MYH6-related condition	2019-06-07	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000037531	SCV001922277	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724395	SCV001927748	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724395	SCV001974360	likely benign	not provided		no assertion criteria provided	clinical testing