ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5169-5G>A (rs727505232)

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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 RCV000156737 SCV000206458 uncertain significance not specified 2014-09-09 criteria provided, single submitter clinical testing The 5169-5G>T variant in MYO7A has not been previously reported in individuals w ith hearing loss. Data from large population studies is insufficient to assess t he frequency of this variant. This variant is located in the 3' splice region. C omputational tools suggest an impact to splicing; however, this information is n ot predictive enough to determine pathogenicity. In summary, the clinical signif icance of the 5169-5G>A variant is uncertain.

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