Submissions for variant NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)

gnomAD frequency: 0.16907  dbSNP: rs56110889

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041853	SCV000065549	benign	not specified	2008-02-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000041853	SCV000114880	benign	not specified	2015-05-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000041853	SCV000169744	benign	not specified	2013-10-30	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.
PreventionGenetics, part of Exact Sciences	RCV000041853	SCV000317206	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001514234	SCV001722033	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001276252	SCV001750326	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041853	SCV003928760	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888397	SCV004707998	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Natera, Inc.	RCV001276252	SCV001462260	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing