ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7971+11G>A (rs188456860)

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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 RCV000223529 SCV000269527 benign not specified 2015-05-03 criteria provided, single submitter clinical testing 7971+11G>A in intron 48 of OTOG: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence, and it has been identified in 2.3% (181/7664) of South Asian chromosomes i ncluding 2 homozygotes by the Exome Aggregation Consortium (ExAC, ; dbSNP rs188456860).
GeneDx RCV001555353 SCV001776761 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing

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