ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3917A>C (p.Lys1306Thr)

gnomAD frequency: 0.00097  dbSNP: rs62641623
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV001328023 SCV001519357 uncertain significance Childhood onset hearing loss 2021-07-08 criteria provided, single submitter research PP3 (non REVEL) / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the Yoruba population, and the information regarding variant MAF in this population is still limited, so we did not exclude any variant based on their "high" MAF. PP3 criteria was applied even if the REVEL score was below 0.7, if at least two of the pathogenicity prediction algorithms used predicted that the variant was damaging or likely damaging.
GeneDx RCV001587348 SCV001816546 uncertain significance not provided 2021-06-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001587348 SCV003261264 likely benign not provided 2024-04-25 criteria provided, single submitter clinical testing

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