ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13440G>A (p.Arg4480=) (rs111033378)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000488103 SCV000884849 benign not provided 2018-01-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488103 SCV000574809 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041742 SCV000114878 benign not specified 2013-10-16 criteria provided, single submitter clinical testing
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).

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