ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.675G>T (p.Glu225Asp) (rs61736015)

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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 RCV000217916 SCV000270676 likely benign not specified 2015-07-16 criteria provided, single submitter clinical testing p.Glu225Asp in exon 6 of OTOG: This variant is not expected to have clinical sig nificance because it is has been identified in 0.7% (8/1100) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs61736015) and 2.1% (19/908) of African chromosomes from the 1000 Genomes Project .
Invitae RCV000897659 SCV001041814 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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