ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.131-11_131-10delinsAA (rs876657857)

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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 RCV000214347 SCV000271932 uncertain significance not specified 2015-05-28 criteria provided, single submitter clinical testing The c.131-11_131-10delinsAA variant in LOXHD1 has not been previously reported i n individuals with hearing loss. Data from large population studies are insuffic ient to assess the frequency of this variant. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However , this information is not predictive enough to rule out pathogenicity. In summar y, the clinical significance of the c.131-11_131-10delinsAA variant is uncertain .

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