Submissions for variant NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)

gnomAD frequency: 0.15011  dbSNP: rs2009923

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041736	SCV000065432	benign	not specified	2008-02-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000041736	SCV000169769	benign	not specified	2011-07-05	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)	RCV000041736	SCV000231899	benign	not specified	2014-07-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000041736	SCV000317193	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001514232	SCV001722029	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001276155	SCV001748490	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003887891	SCV004707248	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Natera, Inc.	RCV001276155	SCV001462009	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing