ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2039A>G (p.Glu680Gly) (rs1555079057)

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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 RCV000607306 SCV000712191 uncertain significance not specified 2016-06-08 criteria provided, single submitter clinical testing The p.Glu680Gly variant in MYO7A has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational p rediction tools and conservation analyses do not provide strong support for or a gainst an impact to the protein. In summary, the clinical significance of the p. Glu680Gly variant is uncertain.

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