ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2115+7T>C (rs186051366)

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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,Partners HealthCare Personalized Medicine RCV000155072 SCV000204756 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing 2115+7T>C in Intron 26 of COL11A2: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 0.5% (19/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS).
GeneDx RCV000155072 SCV000517174 likely benign not specified 2016-11-10 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000155072 SCV000704973 benign not specified 2017-01-19 criteria provided, single submitter clinical testing

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