ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) (rs55961436)

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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 RCV000041708 SCV000065404 benign not specified 2010-07-02 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory; Baylor College of Medicine RCV000119822 SCV000154748 unknown Usher syndrome, type 2A criteria provided, single submitter not provided Converted during submission to Uncertain significance.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000041708 SCV000231871 benign not specified 2014-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000041708 SCV000515236 benign not specified 2015-04-17 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.
Invitae RCV000955280 SCV001101977 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000119822 SCV001459519 benign Usher syndrome, type 2A 2019-12-30 no assertion criteria provided clinical testing

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