ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.2903+6T>G (rs906307749)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000602348 SCV000712242 uncertain significance not specified 2016-06-09 criteria provided, single submitter clinical testing The c.2903+6T>G variant in OTOG has not been previously reported in individuals with hearing loss. Data from large population studies are insufficient to assess the frequency of this variant in the general population. This variant is locate d in the 5' splice region. Computational tools suggest an impact to splicing; ho wever, this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the c.2903+6T>G variant is uncertain.

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