ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.4663G>A (p.Ala1555Thr) (rs545740473)

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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 RCV000214719 SCV000270667 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing p.Ala1555Thr in exon 35 of OTOG: This variant is not expected to have clinical s ignificance due to a lack of conservation in mammals. Of note, three mammals (sq uirrel, manatee, Cape golden mole) have a threonine (Thr) at this position. It h as been identified in 0.6% (5/774) of African chromosomes by the Exome Aggregati on Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs545740473).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000214719 SCV000860027 likely benign not specified 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV000888947 SCV001032605 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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