ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2803G>A (p.Gly935Arg) (rs35548026)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079887 SCV000111770 benign not specified 2016-07-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079887 SCV000150816 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079887 SCV000308306 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267009 SCV000436814 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305730 SCV000436815 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344640 SCV000483963 likely benign GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079887 SCV000518849 benign not specified 2016-01-29 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.
Athena Diagnostics Inc RCV000710898 SCV000841206 benign not provided 2017-11-06 criteria provided, single submitter clinical testing

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