ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1140-4A>C (rs149163390)

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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 RCV000605109 SCV000711516 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 1140-4A>C in intron 9 of OTOG: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce. It has been identified in 1.0% (5/492) of African chromosomes from a broad p opulation by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs149163390).
Invitae RCV000909082 SCV001053875 benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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