ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) (rs397516426)

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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 RCV000156486 SCV000206205 uncertain significance not specified 2014-03-21 criteria provided, single submitter clinical testing The Arg677Trp variant in SLC26A4 has not been reported in individuals with heari ng loss or in large population studies. Computational prediction tools and conse rvation analysis do not provide strong support for or against an impact to the p rotein. Additional information is needed to fully assess the clinical significan ce of the Arg677Trp variant.

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