ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.37C>T (p.Leu13=) (rs76180450)

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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 RCV000041534 SCV000065229 benign not specified 2012-05-14 criteria provided, single submitter clinical testing Leu13Leu in Exon 01 of OTOF: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 0.8% (31/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs76180450).
Invitae RCV000964855 SCV001112101 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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