ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2520C>T (p.Asp840=) (rs147061068)

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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 RCV000221326 SCV000270637 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing p.Asp840Asp in Exon 21 of OTOF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 11/ 57550 of Europe an (Non-Finnish) chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org/; dbSNP rs147061068).
Invitae RCV000896049 SCV001040122 likely benign not provided 2018-11-03 criteria provided, single submitter clinical testing

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