Submissions for variant NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)

gnomAD frequency: 0.00295  dbSNP: rs55921307

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041713	SCV000065409	benign	not specified	2012-03-20	criteria provided, single submitter	clinical testing	Tyr4031Tyr in exon 62 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 0.46% (32/7020) of Europ ean American chromosomes and 0.08% (3/3738) of African American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.washingto n.edu/EVS/; dbSNP rs55921307) and has been reported in cases (5/651 (0.7%)) and controls (9/4482 (0.2%)) with statistically insignificant differences in frequen cy (Dreyer 2008, McGee 2010, Yan 2009).
GeneDx	RCV000041713	SCV000169766	benign	not specified	2012-05-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000041713	SCV000231882	likely benign	not specified	2015-02-20	criteria provided, single submitter	clinical testing
Invitae	RCV000949878	SCV001096150	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000949878	SCV001147665	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BP7, BS2
Genome-Nilou Lab	RCV003450758	SCV004182041	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001271127	SCV004182042	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271127	SCV001451978	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041713	SCV001925387	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000949878	SCV001959597	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000949878	SCV001970048	likely benign	not provided		no assertion criteria provided	clinical testing