ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2406+2dup

dbSNP: rs2148051770
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV003483833 SCV004229030 likely pathogenic Auditory neuropathy 2023-12-22 criteria provided, single submitter research
WangQJ Lab, Chinese People's Liberation Army General Hospital RCV001822922 SCV001762471 uncertain significance Autosomal recessive nonsyndromic hearing loss 9 2021-07-01 no assertion criteria provided clinical testing

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