ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5085+822G>A (rs876657853)

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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 RCV000215918 SCV000271927 uncertain significance not specified 2015-04-28 criteria provided, single submitter clinical testing The p.Gly586Ser variant in LOXHD1 has not been previously reported in individual s with hearing loss and data from large population studies is insufficient to as sess the frequency of this variant. Computational prediction tools and conservat ion analyses do not provide strong support for or against an impact to the prote in. In summary, the clinical significance of the p.Gly586Ser variant is uncertai n.

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