ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=)

gnomAD frequency: 0.00001  dbSNP: rs886042223
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000306171 SCV000332674 uncertain significance not provided 2015-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000306171 SCV001022613 likely benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272026 SCV001453655 uncertain significance Autosomal recessive nonsyndromic hearing loss 77 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003920041 SCV004735779 likely benign LOXHD1-related disorder 2024-09-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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