ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.4871G>A (p.Arg1624His) (rs189248390)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727281 SCV000707214 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000595483 SCV000711521 likely benign not specified 2016-08-31 criteria provided, single submitter clinical testing p.Arg1624His in exon 35 of OTOG: This variant is not expected to have clinical s ignificance because the arginine (Arg) at position 1624 is not conserved through species, with 9 mammals having a histidine (His) at this position. It has also been identified in 0.5% (5/922) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs189248390).

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