ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.233-8G>T (rs375268140)

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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 RCV000214662 SCV000271601 uncertain significance not specified 2015-12-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.233-8G>T vari ant in COLL11A2 has not been reported in individuals with hearing loss or Stickl er syndrome. It has been identified in 13/64704 of European chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs37526 8140); however this frequency is not high enough to rule out a pathogenic role. The variant occurs in the 3' splice region but does not impact the invariant (-1 /-2) positions of the splice consensus sequence. Computational tools do not sugg est an impact to splicing; however, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the c.23 3-8G>T variant is uncertain, these data suggest that it is more likely to be ben ign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727445 SCV000708584 uncertain significance not provided 2017-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000214662 SCV000719500 likely benign not specified 2017-11-21 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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