ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12743A>G (p.His4248Arg) (rs145830318)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756886 SCV000884854 benign not provided 2017-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000756886 SCV000981072 likely benign not provided 2018-06-16 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041730 SCV000065426 benign not specified 2012-05-15 criteria provided, single submitter clinical testing His4248Arg in Exon 63 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 1.7% (65/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs145830318).

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