Submissions for variant NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)

gnomAD frequency: 0.00245  dbSNP: rs146994147

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041741	SCV000065437	benign	not specified	2011-12-16	criteria provided, single submitter	clinical testing	Arg4468Arg in exon 63 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (23/3738) of chromosomes from a broad African American population (dbSNP rs146994147).
GeneDx	RCV000041741	SCV000727790	likely benign	not specified	2018-02-18	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.
Eurofins Ntd Llc (ga)	RCV000041741	SCV000862267	likely benign	not specified	2018-07-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000908912	SCV001053696	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450774	SCV004183178	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001831700	SCV004183179	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001831700	SCV002088265	likely benign	Usher syndrome type 2A	2019-12-14	no assertion criteria provided	clinical testing