ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.6787C>T (p.Arg2263Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004598414 SCV005091200 pathogenic Autosomal recessive nonsyndromic hearing loss 84B 2024-06-03 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP,PM3_SUP
Institute of Rare Diseases, West China Hospital, Sichuan University RCV004598414 SCV005687158 likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B 2025-01-09 criteria provided, single submitter research PVS1;PM2_Supporting

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