ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.663C>T (p.Pro221=) (rs59531343)

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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 RCV000079894 SCV000111777 benign not specified 2012-07-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079894 SCV000150820 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079894 SCV000308314 benign not specified 2016-02-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314347 SCV000436649 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371278 SCV000436650 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079894 SCV000519392 benign not specified 2016-01-25 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 RCV000710900 SCV000841209 benign not provided 2017-11-06 criteria provided, single submitter clinical testing

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