ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) (rs145960317)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000344551 SCV000341766 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000344551 SCV000711010 benign not specified 2016-04-08 criteria provided, single submitter clinical testing p.Arg110Gln in exon 3 of COL11A2: This variant is not expected to have clinical significance because it has been identified in 0.5% (52/10254) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs145960317).
GeneDx RCV000344551 SCV000720353 likely benign not specified 2017-06-22 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286438 SCV001473006 likely benign none provided 2020-07-09 criteria provided, single submitter clinical testing

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