Submissions for variant NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=)

gnomAD frequency: 0.00683  dbSNP: rs6660707

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041959	SCV000065655	benign	not specified	2012-04-27	criteria provided, single submitter	clinical testing	Tyr3241Tyr in exon 49 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, has been identified in 2% (73/3738) of African American chromosomes from a broad population by the NHLBI Exome sequencing proje ct (http://evs.gs.washington.edu/EVS/; dbSNP rs6660707).
Invitae	RCV000972667	SCV001120390	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000972667	SCV001754174	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450914	SCV004182668	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001273699	SCV004182669	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001273699	SCV001457068	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041959	SCV001917237	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000041959	SCV001968757	benign	not specified		no assertion criteria provided	clinical testing