ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2215-155A>G

gnomAD frequency: 0.00076  dbSNP: rs143933877
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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 RCV000156491 SCV000206210 benign not specified 2015-03-30 criteria provided, single submitter clinical testing c.-11A>G in intron 1A of OTOF: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (76/5536) of South Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs143933877).
GeneDx RCV001537816 SCV000717908 likely benign not provided 2021-07-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001537816 SCV005263180 likely benign not provided criteria provided, single submitter not provided

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