ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser) (rs534942001)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825080 SCV000966318 benign not specified 2019-02-01 criteria provided, single submitter clinical testing The p.Asn116Ser variant in OTOG is classified as benign because it has been identified in 0.5% (100/19522) of Finnish chromosomes by gnomAD ( ACMG/AMP Criteria applied: BA1.

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