ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.3076A>T (p.Arg1026Trp) (rs145239283)

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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 RCV000041517 SCV000065212 benign not specified 2011-09-25 criteria provided, single submitter clinical testing Arg1026Trp in exon 25 of OTOF: This variant is not expected to have clinical sig nificance because it has been identified in dbSNP in 0.4% (18/4544) of control c hromosomes (rs145239283).
Invitae RCV000894084 SCV001038049 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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