Submissions for variant NM_206933.4(USH2A):c.12608A>G (p.Gln4203Arg)

gnomAD frequency: 0.00247  dbSNP: rs148556640

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041725	SCV000065421	benign	not specified	2012-09-11	criteria provided, single submitter	clinical testing	Gln4203Arg in exon 63 of USH2A: This variant is not expected to have clinical si gnificance because it is has been identified in 3.4% (6/178) of Asian chromosome s in a broad population by the 1000 Genomes Project. (http://www.ncbi.nlm.nih.go v/variation/tools/1000genomes/; dbSNP rs148556640).
Eurofins Ntd Llc (ga)	RCV000041725	SCV000231906	benign	not specified	2015-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000894796	SCV000526228	benign	not provided	2019-07-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19737284, 21835308, 25133751)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000894796	SCV001038803	benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000894796	SCV004125597	benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BS1, BS2
Genome-Nilou Lab	RCV003450765	SCV004181972	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450764	SCV004181973	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003887888	SCV004707265	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV000894796	SCV005287607	benign	not provided		criteria provided, single submitter	not provided