Submissions for variant NM_206933.4(USH2A):c.13478G>A (p.Arg4493His)

gnomAD frequency: 0.00011  dbSNP: rs138879998

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000216357	SCV000231902	likely benign	not specified	2016-06-28	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216357	SCV000269946	benign	not specified	2015-11-12	criteria provided, single submitter	clinical testing	p.Arg4493His in exon 63 of USH2A: tjhis variant is not expected to have clinical significance because it has been identified in 0.71% (61/8646) of East Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs138879998). It has been reported as a "less likely pathogenic vari ant" in an individual with retinitis pigmentosa (Xu 2014).
Invitae	RCV000879539	SCV001022575	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000879539	SCV001147663	likely benign	not provided	2019-01-01	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV001073767	SCV001239327	uncertain significance	Retinal dystrophy	2017-12-06	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001449650	SCV001652850	likely benign	Usher syndrome type 2A	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000879539	SCV001765863	likely benign	not provided	2021-01-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29899460, 24938718)
Dept Of Ophthalmology, Nagoya University	RCV001073767	SCV004707242	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV004537493	SCV004730695	likely benign	USH2A-related disorder	2020-07-03	criteria provided, single submitter	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).