ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.37A>G (p.Ile13Val) (rs1384593055)

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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 RCV000614890 SCV000731374 uncertain significance not specified 2017-02-28 criteria provided, single submitter clinical testing The p.Ile13Val variant in LOXHD1 has not been previously reported in individuals with hearing loss or in large population studies. Computational prediction tool s and conservation analyses suggest that this variant may not impact the protein , though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ile13Val variant is uncertain.

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