ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2226+2T>G

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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 RCV005052933 SCV005686551 pathogenic Autosomal recessive nonsyndromic hearing loss 18A 2025-01-09 criteria provided, single submitter research PVS1;PM3_Supporting;PM2_Supporting

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