ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.3183A>C (p.Thr1061=)

gnomAD frequency: 0.00001  dbSNP: rs780180476
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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, Mass General Brigham Personalized Medicine RCV000825212 SCV000966491 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Thr1073Thr in exon 26 of OTOG: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/5084 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs780180476).
Invitae RCV002536041 SCV003354195 likely benign not provided 2022-05-08 criteria provided, single submitter clinical testing

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