Submissions for variant NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)

dbSNP: rs111033287

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725788	SCV000339385	uncertain significance	not provided	2016-02-26	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000379856	SCV000731362	likely benign	not specified	2017-01-17	criteria provided, single submitter	clinical testing	p.Arg1743Arg in exon 38 of MYO7A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.4% (7/1682) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs111033287).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000725788	SCV001039446	likely benign	not provided	2024-11-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000725788	SCV001800830	likely benign	not provided	2020-12-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001828223	SCV002088494	likely benign	Usher syndrome type 1B	2020-01-30	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535359	SCV004751169	likely benign	MYO7A-related disorder	2019-06-03	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).