Submissions for variant NM_206933.4(USH2A):c.6270A>G (p.Leu2090=)

gnomAD frequency: 0.00414  dbSNP: rs56245532

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041882	SCV000065578	benign	not specified	2012-02-28	criteria provided, single submitter	clinical testing	Leu2090Leu in exon 32 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction, has been identified in 0.4% (31/7020) of European American ch romosomes and 0.2% (6/3738) African American chromosomes by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; rs56245532), and is reported a s benign in one publication (McGee 2010).
Eurofins Ntd Llc (ga)	RCV000041882	SCV000229587	benign	not specified	2015-02-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000885858	SCV001029332	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000885858	SCV001894550	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000885858	SCV002544365	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BP7, BS2
Genome-Nilou Lab	RCV003450869	SCV004181682	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001276243	SCV004181683	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001276243	SCV001462249	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041882	SCV001922998	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000885858	SCV001951613	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000885858	SCV001968025	likely benign	not provided		no assertion criteria provided	clinical testing