ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.6369G>A (p.Leu2123=) (rs2646254)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576568 SCV000677196 benign Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 2017-06-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080967 SCV000112874 benign not specified 2012-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000080967 SCV000519261 benign not specified 2016-01-26 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.
Genetic Services Laboratory, University of Chicago RCV000080967 SCV000150845 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000376283 SCV000428767 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080967 SCV000310201 benign not specified criteria provided, single submitter clinical testing

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