ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2724A>G (p.Thr908=) (rs9977394)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079884 SCV000111767 benign not specified 2015-12-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079884 SCV000150815 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079884 SCV000308303 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348436 SCV000436804 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386615 SCV000436805 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289634 SCV000483962 benign GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710897 SCV000841205 benign not provided 2017-11-14 criteria provided, single submitter clinical testing

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