ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2010C>T (p.Asn670=) (rs374029967)

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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 RCV000041476 SCV000065171 likely benign not specified 2012-04-17 criteria provided, single submitter clinical testing Asn670Asn in exon 17 of OTOF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence.
Invitae RCV000909800 SCV001054623 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing

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