ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1570A>C (p.Ile524Leu) (rs1163642957)

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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 RCV000599704 SCV000712373 uncertain significance not specified 2016-08-16 criteria provided, single submitter clinical testing The p.Ile524Leu variant in SLC26A4 has not been previously reported in individua ls with hearing loss or in large population studies. Computational prediction to ols and conservation analyses suggest that this variant may not impact the prote in, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ile524Leu variant is uncertain.

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