Submissions for variant NM_206933.4(USH2A):c.9975G>A (p.Gly3325=)

gnomAD frequency: 0.00011  dbSNP: rs188093326

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156040	SCV000205753	likely benign	not specified	2013-11-08	criteria provided, single submitter	clinical testing	Gly3325Gly in Exon 51 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid, it is not found in a splice consensus sequence, and it was identified in 0.8% (3/394) Chinese chromosomes by the 1000 Genomes Project (dbSNP rs188093326)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000939969	SCV001085825	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000939969	SCV001856918	likely benign	not provided	2021-09-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453187	SCV004182622	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453186	SCV004182623	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888603	SCV004707897	likely benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV004544446	SCV004760831	likely benign	USH2A-related disorder	2019-12-18	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).