ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.4741-11C>G (rs181095005)

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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 RCV000220085 SCV000271948 uncertain significance not specified 2015-02-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.4741-11C>G va riant in LOXHD1 has not been previously reported in individuals with hearing los s, but has been identified in 1/2754 African chromosomes by the Exome Aggregatio n Consortium (ExAC, http://exac.broadinstitute.org; rs181095005). This variant i s located in the 3' splice region, but is not located in the conserved positions of the splice site consensus sequence. Computational tools do not suggest an im pact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the c.4741-11C>G variant is uncertain, the computational data suggest that it is more likely to b e benign.

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