ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.7693+14A>T

gnomAD frequency: 0.00199  dbSNP: rs545542156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221662 SCV000270683 likely benign not specified 2015-08-21 criteria provided, single submitter clinical testing c.7729+14A>T in intron 45 of OTOG: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. It has been identified in 0.4% (3/686) of Finnish chromosomes and in 0.1% (3/3450) of European (non-Finnish) chromosomes by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org; dbSNP rs545542156).
Labcorp Genetics (formerly Invitae), Labcorp RCV002057132 SCV002419816 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002057132 SCV005223617 likely benign not provided criteria provided, single submitter not provided

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