ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5109_5110insTTC (p.Arg1703_Leu1704insPhe)

dbSNP: rs2148023735
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Total submissions: 2
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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 RCV001822932 SCV005687140 pathogenic Autosomal recessive nonsyndromic hearing loss 9 2025-01-09 criteria provided, single submitter research PM3_VeryStrong;PP1;PM2_Supporting;PM4
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV001822932 SCV001762481 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2021-07-01 no assertion criteria provided clinical testing

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