ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5214-7C>G (rs376131738)

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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 RCV000213523 SCV000271952 uncertain significance not specified 2015-11-25 criteria provided, single submitter clinical testing The c.5214-7C>G variant in LOXHD1 has not been previously reported in individual s with hearing loss. Data from large population studies is insufficient to asses s the frequency of this variant. Computational tools suggest an impact to splici ng; however, this information is not predictive enough to determine pathogenicit y. In summary, the clinical significance of the c.5214-7C>G variant is uncertain .

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