ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1530C>T (p.Ile510=) (rs150452778)

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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 RCV000041463 SCV000065158 likely benign not specified 2015-10-02 criteria provided, single submitter clinical testing p.Ile510Ile in exon 14 of OTOF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (79/65848) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro; dbSNP rs150452778).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724538 SCV000226185 uncertain significance not provided 2015-01-29 criteria provided, single submitter clinical testing
Invitae RCV000724538 SCV001039113 likely benign not provided 2018-10-10 criteria provided, single submitter clinical testing

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