ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13440G>A (p.Arg4480=)

gnomAD frequency: 0.00488  dbSNP: rs111033378
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041742 SCV000065438 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg4480Arg in exon 63 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 0.7% (46/7020) of Europe an American chromosomes and 0.1% (5/3738) of African American chromosomes from a broad population by the NHLBI Exome sequencing project (http://evs.gs.washingto n.edu/EVS/; dbSNP rs111033378), and it has been listed as benign in two publicat ions (Dreyer 2008, McGee 2010).
Eurofins Ntd Llc (ga) RCV000041742 SCV000114878 benign not specified 2013-10-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000488103 SCV000574809 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing USH2A: BP4, BP7, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000488103 SCV000884849 benign not provided 2020-03-20 criteria provided, single submitter clinical testing
Invitae RCV000488103 SCV001101517 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276154 SCV001712295 benign Usher syndrome type 2A 2021-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579144 SCV001806565 benign Retinitis pigmentosa 39 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000488103 SCV001851938 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276154 SCV001462008 benign Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041742 SCV001959147 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000488103 SCV001967991 likely benign not provided no assertion criteria provided clinical testing

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