ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2097C>T (p.Gly699=) (rs13046639)

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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 RCV000710893 SCV000841201 benign not provided 2017-09-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079870 SCV000111753 benign not specified 2012-07-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079870 SCV000150809 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381689 SCV000436739 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291715 SCV000436740 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079870 SCV000308283 benign not specified criteria provided, single submitter clinical testing

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