Submissions for variant NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)

gnomAD frequency: 0.00099  dbSNP: rs139664153

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000712367	SCV000344104	uncertain significance	not provided	2016-09-07	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712367	SCV000842841	uncertain significance	not provided	2018-05-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000712367	SCV001017382	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV001195439	SCV001365808	benign	not specified	2019-04-26	criteria provided, single submitter	clinical testing	The p.Arg1177His variant in MYO6 is classified as benign because it has been identified in 0.3% (77/24958) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx	RCV000712367	SCV001813201	likely benign	not provided	2020-02-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543130	SCV004767565	likely benign	MYO6-related disorder	2019-12-26	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).