Submissions for variant NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)

gnomAD frequency: 0.01377  dbSNP: rs56038610

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041778	SCV000065474	benign	not specified	2013-03-07	criteria provided, single submitter	clinical testing	Arg5031Trp in exon 70 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 1.3% (167/12839) of chromosomes fr om a broad population by the NHLBI Exome sequencing project (http://evs.gs.washi ngton.edu/EVS/; dbSNP rs56038610) and is reported as benign in Dreyer et al. 200 8.
GeneDx	RCV000041778	SCV000169775	benign	not specified	2014-01-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000041778	SCV000707025	benign	not specified	2017-03-28	criteria provided, single submitter	clinical testing
Counsyl	RCV000674670	SCV000800051	likely benign	Usher syndrome type 2A; Retinitis pigmentosa 39	2018-06-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000087008	SCV001146604	benign	not provided	2018-09-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000087008	SCV001156939	benign	not provided	2023-10-06	criteria provided, single submitter	clinical testing
Invitae	RCV000087008	SCV001719827	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001271911	SCV001748646	likely benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041778	SCV002051060	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000087008	SCV003916550	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BS1, BS2
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000087008	SCV000119261	not provided	not provided		no assertion provided	not provided
Natera, Inc.	RCV001271911	SCV001453406	benign	Usher syndrome type 2A	2019-08-29	no assertion criteria provided	clinical testing