ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2039G>A (p.Arg680His) (rs1042917)

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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 RCV000710891 SCV000841199 benign not provided 2017-09-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079868 SCV000111751 benign not specified 2012-07-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079868 SCV000150807 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320471 SCV000436735 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380396 SCV000436736 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079868 SCV000308280 benign not specified criteria provided, single submitter clinical testing

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