ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.458G>A

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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 RCV000825363 SCV000966658 uncertain significance not specified 2018-09-12 criteria provided, single submitter clinical testing The p.Arg153His variant in LOXHD1 has not been previously reported in individual s with hearing loss but has been identified in 3/57886 of European chromosomes b y the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. In summary, the clinical signific ance of the p.Arg153His variant is uncertain. ACMG/AMP Criteria applied: PM2.

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