ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro) (rs80356574)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000041520 SCV000717015 likely benign not specified 2018-01-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
GeneReviews RCV000021056 SCV000041711 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041520 SCV000065215 benign not specified 2010-10-06 criteria provided, single submitter clinical testing Ala1083Pro in exon 26 of OTOF: This variant is not expected to have clinical sig nificance because this residue is not highly conserved across species and this v ariant has been reported as benign in two publications (Varga 2006, Rodriguez-Ba llesteros 2008).

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