ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val) (rs138037294)

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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 RCV000825800 SCV000967269 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gly1364Val in Exon 34 of OTOF: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (16/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs138037294).
Invitae RCV000921292 SCV001066692 likely benign not provided 2018-08-30 criteria provided, single submitter clinical testing

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