ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5179del (p.Arg1727fs)

dbSNP: rs1664580718
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001263104 SCV001439386 likely pathogenic Autosomal recessive nonsyndromic hearing loss 9 2020-10-15 criteria provided, single submitter clinical testing

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