ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.2294-7A>G

gnomAD frequency: 0.00009  dbSNP: rs200998174
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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 RCV000607216 SCV000712455 uncertain significance not specified 2016-10-09 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.2330-7A>G var iant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 1/4954 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200998174). This vari ant is located in the 3' splice region. Computational tools do not suggest an im pact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the c.2330-7A>G variant is uncertain, these data suggest that it is more likely to be benign.
GeneDx RCV001722547 SCV000719092 likely benign not provided 2021-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001722547 SCV003498662 likely benign not provided 2024-08-28 criteria provided, single submitter clinical testing

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