ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.8682G>A (p.Leu2894=) (rs542151771)

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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,Partners HealthCare Personalized Medicine RCV000220291 SCV000270694 likely benign not specified 2016-01-14 criteria provided, single submitter clinical testing p.Leu2894Leu in exon 55 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 5/5654 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs542151771).
Invitae RCV000892877 SCV001036781 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000892877 SCV001144852 likely benign not provided 2019-07-17 criteria provided, single submitter clinical testing

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