ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1476G>T (p.Arg492Ser) (rs765918184)

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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 RCV000219683 SCV000272870 uncertain significance not specified 2015-01-22 criteria provided, single submitter clinical testing The p.Arg492Ser variant in USH1C has not been previously reported in individuals with hearing loss, but has been identified in 3/66362 European chromosomes by t he Exome Aggregation Consortium (ExAC, Computat ional prediction tools and conservation analyses do not provide strong support f or or against an impact to the protein. In summary, the clinical significance of the p.Arg492Ser variant is uncertain.

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