Submissions for variant NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp)

gnomAD frequency: 0.05402  dbSNP: rs4129843

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041957	SCV000065653	benign	not specified	2008-03-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000041957	SCV000169756	benign	not specified	2011-08-18	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	RCV000041957	SCV000317217	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV001514233	SCV001722030	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001273700	SCV001750312	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888414	SCV004707905	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Natera, Inc.	RCV001273700	SCV001457069	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing