ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.1213+14A>C

gnomAD frequency: 0.00290  dbSNP: rs143302987
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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 RCV000608993 SCV000711517 likely benign not specified 2016-10-13 criteria provided, single submitter clinical testing c.1249+14A>C in intron 10 of OTOG: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 1.4% (9/646) of African chromosomes by the Exo me Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1433029 87).
GeneDx RCV001580523 SCV001817712 likely benign not provided 2018-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001580523 SCV002405451 benign not provided 2024-10-26 criteria provided, single submitter clinical testing

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