ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) (rs111033405)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000211733 SCV000065245 likely pathogenic Rare genetic deafness 2008-12-02 no assertion criteria provided clinical testing
GeneReviews RCV000041550 SCV000243818 association Deafness, autosomal recessive 9 2015-07-30 no assertion criteria provided literature only

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