ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.4857G>A (p.Ser1619=) (rs369768224)

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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 RCV000609827 SCV000731871 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ser1619Ser in exon 35 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 1/5318 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs369768224).
GeneDx RCV000828317 SCV000970002 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing

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