ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6043A>T (p.Ile2015Phe) (rs563899816)

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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 RCV000215222 SCV000271955 uncertain significance not specified 2016-01-15 criteria provided, single submitter clinical testing The p.Ile2015Phe variant in LOXHD1 has been previously identified by our laborat ory in one individual whose hearing loss could be explained by an alternate gene tic cause. This variant has not been identified in large population studies. Com putational prediction tools and conservation analysis do not provide strong supp ort for or against an impact to the protein. In summary, the clinical significan ce of the p.Ile2015Phe variant is uncertain.

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