ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.1030-3C>T (rs370872111)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000609097 SCV000711212 uncertain significance not specified 2017-01-28 criteria provided, single submitter clinical testing The c.1030-3C>T variant in TMC1 has not been previously reported in individuals with hearing loss, but has been identified in 1/4406 African American chromosome s by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSN P rs370872111). Although this variant has been seen in the general population, i ts frequency is not high enough to rule out a pathogenic role. This variant is l ocated in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathoge nicity. In summary, the clinical significance of the c.1030-3C>T variant is unce rtain.

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