ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2220T>C (p.Asp740=) (rs61735830)

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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 RCV000153085 SCV000202541 likely benign not specified 2015-02-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153085 SCV000308289 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363329 SCV000436753 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268659 SCV000436754 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000153085 SCV000527466 likely benign not specified 2017-06-20 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.
Genetic Services Laboratory, University of Chicago RCV000153085 SCV000594198 likely benign not specified 2016-04-27 criteria provided, single submitter clinical testing
Invitae RCV000552565 SCV000657136 benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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