ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.11736G>A (p.Glu3912=) (rs56053654)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000714156 SCV000844839 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000041702 SCV000169763 benign not specified 2011-08-12 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 RCV000041702 SCV000065398 benign not specified 2009-11-24 criteria provided, single submitter clinical testing
PreventionGenetics RCV000041702 SCV000317189 benign not specified criteria provided, single submitter clinical testing

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