ClinVar Miner

Submissions for variant NM_144672.4(OTOA):c.44T>A (p.Phe15Tyr)

gnomAD frequency: 0.04754  dbSNP: rs78970023
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041226 SCV000064917 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Phe15Tyr in Exon 01 of OTOA: This variant is not expected to have clinical signi ficance because it has been identified in 8.2% (305/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs78970023).
PreventionGenetics, part of Exact Sciences RCV000041226 SCV000316027 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000041226 SCV000717838 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002054809 SCV002363110 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002054809 SCV005293102 benign not provided criteria provided, single submitter not provided

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