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

gnomAD frequency: 0.00830  dbSNP: rs113447586

Total submissions: 8

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)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000755429	SCV001027318	benign	not provided	2025-01-27	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
Breakthrough Genomics, Breakthrough Genomics	RCV000755429	SCV005287597	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001826592	SCV002088229	benign	Usher syndrome type 2A	2019-12-07	no assertion criteria provided	clinical testing