ClinVar Miner

Submissions for variant NM_144672.4(OTOA):c.2238G>A (p.Thr746=)

gnomAD frequency: 0.01270  dbSNP: rs72640475
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Total submissions: 3
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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 RCV000041225 SCV000064916 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr746Thr in Exon 20 of OTOA: 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 0.3% (22/6966) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs76494517).
GeneDx RCV000041225 SCV000717839 benign not specified 2017-06-13 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001548 SCV001158914 benign Autosomal recessive nonsyndromic hearing loss 22 2018-08-29 criteria provided, single submitter clinical testing

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