ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7183G>A (p.Gly2395Arg) (rs866627770)

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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 RCV000609897 SCV000712263 uncertain significance not specified 2016-06-21 criteria provided, single submitter clinical testing The p.Gly2395Arg variant in OTOG has not been previously reported in individuals with hearing loss. Data from large population studies are insufficient to asses s the frequency of this variant in the general population. Computational predict ion tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogeni city. In summary, the clinical significance of the p.Gly2395Arg variant is uncer tain.

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