ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.4841C>T (p.Pro1614Leu)

dbSNP: rs897939885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001813783 SCV002061011 uncertain significance not provided 2022-01-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477896 SCV000536767 uncertain significance Autosomal recessive nonsyndromic hearing loss 18B 2016-04-27 no assertion criteria provided research

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