ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr)

dbSNP: rs2142386490
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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 RCV001822950 SCV005686981 likely pathogenic Autosomal recessive nonsyndromic hearing loss 3 2025-01-09 criteria provided, single submitter research PM3_Strong;PM2_Supporting;PP3
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV001822950 SCV001762499 uncertain significance Autosomal recessive nonsyndromic hearing loss 3 2021-07-01 no assertion criteria provided clinical testing

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