Submissions for variant NM_206933.4(USH2A):c.12612A>G (p.Thr4204=)

gnomAD frequency: 0.74921  dbSNP: rs2797235

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154669	SCV000204347	benign	not specified	2012-02-02	criteria provided, single submitter	clinical testing	Inferred frequency = 273/386 (LMM data)
Eurofins Ntd Llc (ga)	RCV000154669	SCV000231907	benign	not specified	2014-08-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001511033	SCV001158870	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511033	SCV001718207	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001532780	SCV001748492	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154669	SCV003928749	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453162	SCV004181971	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888600	SCV004707264	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV001511033	SCV005287606	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001532780	SCV002088294	benign	Usher syndrome type 2A	2019-11-18	no assertion criteria provided	clinical testing