ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.390G>C (p.Arg130=) (rs149638770)

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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 RCV000350222 SCV000341763 likely benign not specified 2016-06-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000350222 SCV000711009 benign not specified 2016-04-08 criteria provided, single submitter clinical testing p.Arg130Arg in exon 03 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 0.5% (52/10276) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs149638770).
GeneDx RCV000350222 SCV000720354 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 RCV001286437 SCV001473005 benign none provided 2020-07-09 criteria provided, single submitter clinical testing

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