ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3734-13T>C

gnomAD frequency: 0.00113  dbSNP: rs368329882
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Total submissions: 3
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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 RCV000041532 SCV000065227 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing 3734-13T>C in intron 29 of OTOF: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not predicted to impact the splice consensus sequence and has been identified in 0.1% (5/3734) o f African American chromosomes from a broad population by the NHLBI Exome sequen cing project (http://evs.gs.washington.edu/EVS/).
GeneDx RCV001564194 SCV001787319 likely benign not provided 2021-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001564194 SCV002478779 benign not provided 2024-01-17 criteria provided, single submitter clinical testing

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