ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2836A>C (p.Met946Leu) (rs1357072694)

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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 RCV000603317 SCV000731395 uncertain significance not specified 2017-01-19 criteria provided, single submitter clinical testing The p.Met946Leu variant in MYO7A has not been previously reported in individuals with hearing loss or Usher syndrome, or in large population studies. Computatio nal prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of t he p.Met946Leu variant is uncertain.

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