ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3583-3C>T (rs727502939)

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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 RCV000150350 SCV000197460 uncertain significance not specified 2014-03-21 criteria provided, single submitter clinical testing The 3583-3C>T variant in COL11A2 has not been previously reported in individuals with hearing loss and was absent from large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact t o splicing. However, this information is not predictive enough to rule out patho genicity. In summary, the clinical significance of the 3583-3C>T variant is unce rtain.
GeneDx RCV000150350 SCV000723603 likely benign not specified 2017-10-09 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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