Submissions for variant NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys)

gnomAD frequency: 0.62414  dbSNP: rs1805049

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154668	SCV000204345	benign	not specified	2012-02-02	criteria provided, single submitter	clinical testing	Inferred frequency = 141/386 (LMM data)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001515001	SCV001158871	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515001	SCV001722982	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001533662	SCV001750414	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154668	SCV003928758	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888599	SCV004708008	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV001515001	SCV005280601	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000154668	SCV001743749	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000154668	SCV001970425	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001533662	SCV002093899	benign	Usher syndrome type 2A	2019-11-18	no assertion criteria provided	clinical testing