ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2696G>A (p.Arg899Gln) (rs745683775)

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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 RCV000607679 SCV000712105 uncertain significance not specified 2016-05-11 criteria provided, single submitter clinical testing The p.Arg899Gln variant in LOXHD1 has not been previously reported in individual s with hearing loss. Data from large population studies is insufficient to asses s the frequency of this variant. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Arg899Gln variant is uncertain.

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