ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) (rs111033366)

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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 RCV000041573 SCV000065268 likely benign not specified 2014-12-29 criteria provided, single submitter clinical testing p.Asp1798Asp in exon 43 of OTOF: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.4% (40/10584) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs111033366).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732199 SCV000860122 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing

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