Submissions for variant NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala)

gnomAD frequency: 0.03269  dbSNP: rs56032526

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041949	SCV000065645	benign	not specified	2009-06-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000041949	SCV000169754	benign	not specified	2014-05-06	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	RCV000041949	SCV000317216	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000087015	SCV001722031	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001273704	SCV001750314	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888413	SCV004707908	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV000087015	SCV005287645	benign	not provided		criteria provided, single submitter	not provided
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000087015	SCV000119268	not provided	not provided		no assertion provided	not provided
Natera, Inc.	RCV001273704	SCV001457074	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing