ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5575_5576del (p.Lys1859fs)

dbSNP: rs111033446
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041577 SCV000065272 likely pathogenic Rare genetic deafness 2009-09-03 no assertion criteria provided clinical testing

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