Submissions for variant NM_206933.4(USH2A):c.4758+3A>G

gnomAD frequency: 0.00056  dbSNP: rs117798425

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000599908	SCV000711239	benign	not specified	2017-11-22	criteria provided, single submitter	clinical testing	c.4758+3A>G in intron 22 of USH2A: This variant is not expected to have clinical significance because it has been identified in 1.9% (348/18756) of East Asian c hromosomes, including 4 homozygotes, by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbSNP rs117798425). ACMG/AMP Criteria applie d: BA1.
Eurofins Ntd Llc (ga)	RCV000599908	SCV000856091	likely benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000907794	SCV001052521	benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
Mendelics	RCV000986536	SCV001135554	likely benign	Usher syndrome type 2A	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000907794	SCV001941370	benign	not provided	2018-12-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25445212, 25404053, 30245029, 29625443, 31180159, 31904091, 32090030, 32893482, 33090715)
Fulgent Genetics, Fulgent Genetics	RCV002492523	SCV002801870	likely benign	Usher syndrome type 2A; Retinitis pigmentosa 39	2022-02-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445558	SCV004172136	likely benign	Retinitis pigmentosa 39	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000986536	SCV004172137	likely benign	Usher syndrome type 2A	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000907794	SCV005093422	likely benign	not provided	2025-06-01	criteria provided, single submitter	clinical testing	USH2A: BS1
Molecular Diagnostics Laboratory, Seoul National University Hospital	RCV000144478	SCV000189613	uncertain significance	Leber congenital amaurosis	2014-09-18	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000986536	SCV001455638	benign	Usher syndrome type 2A	2020-06-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004732703	SCV005350987	likely benign	USH2A-related disorder	2024-08-26	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).