ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13440G>A (p.Arg4480=) (rs111033378)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041742 SCV000114878 benign not specified 2013-10-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488103 SCV000574809 likely benign not provided 2018-07-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283239 SCV000884849 benign none provided 2020-03-20 criteria provided, single submitter clinical testing
Invitae RCV000488103 SCV001101517 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001276154 SCV001712295 benign Usher syndrome, type 2A 2021-05-18 criteria provided, single submitter clinical testing
Nilou-Genome 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
Human Genetics - Radboudumc,Radboudumc RCV000041742 SCV001959147 benign not specified no assertion criteria provided clinical testing

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