Submissions for variant NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp)

gnomAD frequency: 0.00830  dbSNP: rs113447586

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041759	SCV000065455	benign	not specified	2011-12-16	criteria provided, single submitter	clinical testing	Ala4778Asp in exon 65 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 2.7% (100/3738) of chromosomes from a broad African American population (dbSNP rs146994147).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755429	SCV000605553	benign	not provided	2017-05-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000755429	SCV000730481	benign	not provided	2019-02-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20507924)
Invitae	RCV000755429	SCV001027318	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450792	SCV004183075	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001826592	SCV004183076	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001826592	SCV002088229	benign	Usher syndrome type 2A	2019-12-07	no assertion criteria provided	clinical testing