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

gnomAD frequency: 0.16907  dbSNP: rs56110889

Total submissions: 10

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
Labcorp Genetics (formerly Invitae), Labcorp	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
Breakthrough Genomics, Breakthrough Genomics	RCV001514234	SCV005280592	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001276252	SCV001462260	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing