ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.15428G>A (p.Arg5143His) (rs111033435)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041786 SCV000065482 benign not specified 2012-01-11 criteria provided, single submitter clinical testing Arg5143His in exon 71 of USH2A: This variant has been reported in 2/80 individua ls with non-syndromic retinitis pigmentosa (McGee 2010); however, this variant i s not expected to have clinical significance because it has been identified in 5 .1% (188/3738) of African American control chromosomes by the NHBLI Exome sequen cing project (; dbSNP rs111033435).
GeneDx RCV000041786 SCV000169777 benign not specified 2013-04-30 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000041786 SCV000605552 benign not specified 2015-11-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041786 SCV000860033 benign not specified 2018-03-20 criteria provided, single submitter clinical testing

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