ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1333-8T>C (rs73159701)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079845 SCV000111728 benign not specified 2016-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000079845 SCV000518467 benign not specified 2016-01-28 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 RCV000079845 SCV000150802 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294497 SCV000436683 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335681 SCV000436684 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079845 SCV000308256 benign not specified 2016-01-07 criteria provided, single submitter clinical testing

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