ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3570+2T>C

dbSNP: rs1464318474
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814554 SCV001755608 likely pathogenic Ear malformation 2021-07-10 criteria provided, single submitter clinical testing

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