ClinVar Miner

Submissions for variant NC_000011.10:g.77160277G>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 RCV000825400 SCV000966697 uncertain significance not specified 2018-07-03 criteria provided, single submitter clinical testing The p.Val399Ile variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome. This variant has been identified in 1/871 2 African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad. broadinstitute.org). Computational prediction tools and conservation analyses su ggest that this variant may not impact the protein, though this information is n ot predictive enough to rule out pathogenicity. In summary, the clinical signifi cance of the p.Val399Ile variant is uncertain. ACMG/AMP Criteria applied: BP4, PM2_Supporting.

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