ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1770+4G>A (rs9981981)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710890 SCV000841198 benign not provided 2017-11-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079860 SCV000111743 benign not specified 2014-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000079860 SCV000519382 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 RCV000079860 SCV000150806 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317183 SCV000436715 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371874 SCV000436716 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079860 SCV000308273 benign not specified criteria provided, single submitter clinical testing

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