ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2549G>A (p.Arg850His) (rs1053312)

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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 RCV000576724 SCV000677191 benign Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 2017-05-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079798 SCV000111681 benign not specified 2012-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000079798 SCV000512727 benign not specified 2016-01-22 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.
Genetic Services Laboratory, University of Chicago RCV000079798 SCV000150790 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305303 SCV000436563 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079798 SCV000308205 benign not specified criteria provided, single submitter clinical testing

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