ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.1020C>T (p.Asp340=) (rs138250704)

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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 RCV000151613 SCV000199807 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asp340Asp in Exon 11 of OTOF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.2% (6/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs138250704).
Invitae RCV000911170 SCV001056228 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing

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