ClinVar Miner

Submissions for variant NC_000011.10:g.77201522G>A

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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 RCV000825397 SCV000966694 uncertain significance not specified 2018-05-18 criteria provided, single submitter clinical testing The p.Val1643Ile variant in MYO7A has not been reported in individuals with hear ing loss or Usher syndrome and was absent from large population studies. Computa tional prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Val1643Ile va riant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.

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