ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) (rs139525746)

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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, Partners HealthCare Personalized Medicine RCV000041546 SCV000065241 likely benign not specified 2010-08-13 criteria provided, single submitter clinical testing Tyr1516Tyr in exon 37 of OTOF: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located nea r a splice junction.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727435 SCV000708529 uncertain significance not provided 2017-05-22 criteria provided, single submitter clinical testing
Invitae RCV000727435 SCV001115998 likely benign not provided 2018-05-21 criteria provided, single submitter clinical testing

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