ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.3867dup

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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 RCV005053247 SCV005686885 pathogenic Autosomal recessive nonsyndromic hearing loss 3 2025-01-09 criteria provided, single submitter research PVS1;PM3;PM2_Supporting

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