ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3409-2A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Rare Diseases, West China Hospital, Sichuan University RCV005053457 SCV005687123 likely pathogenic Autosomal recessive nonsyndromic hearing loss 9 2025-01-09 criteria provided, single submitter research PVS1;PM2_Supporting

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