ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.*4G>A (rs876657856)

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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 RCV000221293 SCV000271931 uncertain significance not specified 2015-05-04 criteria provided, single submitter clinical testing The c.*4G>A variant in LOXHD1 has not been previously reported in individuals wi th hearing loss. Data from large population studies is insufficient to assess th e frequency of this variant. This variant occurs in the 3'UTR. This genomic regi on contains regulatory elements essential for the regulation and transport of th e mRNA transcript, and variants in this region could result in dysregulation or disruption of these functions. In summary, the clinical significance of the c.*4 G>A variant is uncertain.

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