Submissions for variant NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)

gnomAD frequency: 0.00962  dbSNP: rs78253373

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041746	SCV000065442	benign	not specified	2011-06-21	criteria provided, single submitter	clinical testing	Ser4588Tyr in exon 63 of USH2A: This variant is predicted to be benign based on its high frequency in the general population (dbSNP rs78253373).
GeneDx	RCV000041746	SCV000515238	benign	not specified	2015-07-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000880724	SCV000605539	benign	not provided	2022-07-15	criteria provided, single submitter	clinical testing
Invitae	RCV000880724	SCV001023843	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504923	SCV002794882	likely benign	Usher syndrome type 2A; Retinitis pigmentosa 39	2021-07-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450777	SCV004183133	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001276153	SCV004183134	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001276153	SCV001462007	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing