Submissions for variant NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr)

gnomAD frequency: 0.67783  dbSNP: rs6657250

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000154111	SCV000203774	benign	not specified	2013-03-06	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154111	SCV000204346	benign	not specified	2012-02-02	criteria provided, single submitter	clinical testing	Inferred frequency = 157/386 (LMM data)
Mendelics	RCV000986531	SCV001135548	benign	Usher syndrome type 2A	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001513475	SCV001156868	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513475	SCV001721094	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000986531	SCV001750325	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154111	SCV003928757	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888598	SCV004707970	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV001513475	SCV005280581	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000986531	SCV002090892	benign	Usher syndrome type 2A	2019-11-18	no assertion criteria provided	clinical testing