ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1321C>T (p.Arg441Trp) (rs199968574)

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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 RCV000216963 SCV000270647 likely benign not specified 2015-05-03 criteria provided, single submitter clinical testing p.Arg441Trp in exon 11 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (7/942) of African chromosome s and in 0.3% (18/5488) of European chromosomes by the Exome Aggregation Consort ium (ExAC,; dbSNP rs199968574).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000216963 SCV000707218 likely benign not specified 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV000907613 SCV001052329 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing

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