ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.2330-7A>G (rs200998174)

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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 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 RCV000607216 SCV000719092 likely benign not specified 2017-05-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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