ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7389A>C (p.Gln2463His) (rs145833172)

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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 RCV000614697 SCV000711526 likely benign not specified 2017-11-15 criteria provided, single submitter clinical testing p.Gln2463His in exon 43 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.4% (62/15180) of African chromos omeschromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadi nstitute.org; dbSNP rs145833172).
Invitae RCV000920813 SCV001066192 likely benign not provided 2018-06-19 criteria provided, single submitter clinical testing

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