ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.6811G>A (p.Ala2271Thr) (rs116503251)

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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 RCV000221438 SCV000269518 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala2271Thr in exon 40 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 6.8% (12/176) of Yoruba (Nigerian) c hromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi. nlm.nih.gov/projects/SNP; dbSNP rs116503251).
Invitae RCV000886810 SCV001030337 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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