ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) (rs146994147)

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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 RCV000041741 SCV000065437 benign not specified 2011-12-16 criteria provided, single submitter clinical testing Arg4468Arg in exon 63 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (23/3738) of chromosomes from a broad African American population (dbSNP rs146994147).
GeneDx RCV000041741 SCV000727790 likely benign not specified 2018-02-18 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041741 SCV000862267 likely benign not specified 2018-07-10 criteria provided, single submitter clinical testing
Invitae RCV000908912 SCV001053696 benign not provided 2020-12-02 criteria provided, single submitter clinical testing

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