ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.6193_6198AGGAAG[3] (p.2065_2066RK[3]) (rs1555651404)

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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 RCV000612670 SCV000732009 uncertain significance not specified 2017-12-05 criteria provided, single submitter clinical testing The p.Arg2067_Lys2068dup variant in LOXHD1 has not been previously reported in i ndividuals with hearing loss or large population studies. This variant is a dupl ication of two amino acids that adds one more repeat to the existing two repeats of the two amino acid residues at the locus and is not predicted to alter the p rotein reading-frame. It is unclear if this duplication will impact the protein. In summary, the clinical significance of the p.Arg2067_Lys2068dup variant is un certain. ACMG/AMP Criteria applied: PM2, BP3 (Richards 2015).

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