ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.416-7T>C (rs111033387)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036495 SCV000343166 likely benign not specified 2017-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000036495 SCV000727302 likely benign not specified 2018-02-08 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 RCV000036495 SCV000060150 uncertain significance not specified 2008-04-18 no assertion criteria provided clinical testing

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