Submissions for variant NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile)

gnomAD frequency: 0.00394  dbSNP: rs59174500

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155403	SCV000205090	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	Val2820Ile in Exon 42 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 1.4% (54/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs59174500).
GeneDx	RCV000965590	SCV000523724	benign	not provided	2019-05-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000965590	SCV001112860	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492586	SCV002799465	likely benign	Usher syndrome type 2A; Retinitis pigmentosa 39	2022-05-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453175	SCV004182803	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001826838	SCV004182804	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000965590	SCV005287654	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001826838	SCV002090820	benign	Usher syndrome type 2A	2019-12-08	no assertion criteria provided	clinical testing