ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1002-12A>G (rs1554358492)

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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 RCV000612894 SCV000712441 uncertain significance not specified 2016-08-30 criteria provided, single submitter clinical testing The c.1002-12A>G variant in SLC26A4 has not been previously reported in individu als with hearing loss or Pendred syndrome and was absent from large population s tudies. This variant is located in the 3' splice region. Computational tools do suggest an impact to splicing. However, this information is not predictive enoug h to determine pathogenicity. In summary, the clinical significance of the c.100 2-12A>G variant is uncertain.

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