ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.5085+903A>T (rs200930427)

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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 RCV000217706 SCV000271930 uncertain significance not specified 2015-08-06 criteria provided, single submitter clinical testing The p.Met613Leu variant in LOXHD1 has not been previously reported in individual s with hearing loss, but has been identified in 1/565 of Caucasian chromosomes b y the ClinSeq project (dbSNP rs200930427). Computational prediction tools and co nservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary , the clinical significance of the p.Met613Leu variant is uncertain.

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