ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.446C>T (p.Thr149Met) (rs140454738)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724434 SCV000231241 uncertain significance not provided 2014-12-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041545 SCV000065240 likely benign not specified 2018-01-25 criteria provided, single submitter clinical testing p.Thr149Met in exon 5A of OTOF: This variant is not expected to have clinical si gnificance because it has also been identified in 0.34% (35/10152) of Ashkenazi Jewish chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org/; dbSNP rs140454738). It has also been identified in 1 individua l with Usher syndrome who was found to have an alternate genetic etiology for Us her syndrome. ACMG/AMP criteria applied: BS1; BP5; PP3.

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