Submissions for variant NM_206933.4(USH2A):c.6875G>A (p.Arg2292His)

gnomAD frequency: 0.02015  dbSNP: rs41277210

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041897	SCV000065593	benign	not specified	2009-06-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000041897	SCV000169748	benign	not specified	2013-10-17	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.
Athena Diagnostics	RCV000087013	SCV001146619	benign	not provided	2018-09-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000087013	SCV001719829	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450880	SCV004181601	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001274246	SCV004181602	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888404	SCV004707957	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV000087013	SCV005280574	benign	not provided		criteria provided, single submitter	not provided
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000087013	SCV000119266	not provided	not provided		no assertion provided	not provided
Natera, Inc.	RCV001274246	SCV001458126	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing