ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1708-14A>G (rs1453109539)

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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 RCV000608459 SCV000732020 uncertain significance not specified 2017-12-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.1708-14A>G va riant in SLC26A4 has not been previously reported in individuals with hearing lo ss or in large population studies. This variant is located in the 3' splice regi on. Computational tools do not suggest an impact to splicing. However, this info rmation is not predictive enough to rule out pathogenicity. In summary, while th e clinical significance of the c.1708-14A>G variant is uncertain, these data sug gest that it is more likely to be benign. ACMG/AMP Criteria applied: PM2, BP7.

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