Submissions for variant NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln)

gnomAD frequency: 0.00246  dbSNP: rs150264392

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041688	SCV000065384	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Glu3731Gln in Exon 57 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (26/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs150264392).
CeGaT Center for Human Genetics Tuebingen	RCV000513396	SCV000608516	uncertain significance	not provided	2017-05-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000513396	SCV001038517	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000513396	SCV001834308	benign	not provided	2019-02-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21701875)
Natera, Inc.	RCV001271138	SCV001451991	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541215	SCV004760791	benign	USH2A-related disorder	2021-05-03	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).