ClinVar Miner

Submissions for variant NM_144612.6(LOXHD1):c.2677G>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 RCV000825361 SCV000966656 uncertain significance not specified 2018-10-30 criteria provided, single submitter clinical testing The p.Val893Met variant in LOXHD1 has not been previously reported in individual s with hearing loss but has been identified in 0.03% (8/24730) of Latino chromos omes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Val893Met vari ant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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