ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln) (rs77211159)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041767 SCV000065463 benign not specified 2010-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000041767 SCV000169773 benign not specified 2011-07-05 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 RCV000041767 SCV000231957 benign not specified 2016-08-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285957 SCV001472470 benign none provided 2020-01-16 criteria provided, single submitter clinical testing
Invitae RCV001509630 SCV001716453 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276147 SCV001462000 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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