ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2558G>A (p.Arg853Gln) (rs144830948)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000149936 SCV000331147 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000149936 SCV000196787 likely benign not specified 2017-07-20 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.
Illumina Clinical Services Laboratory,Illumina RCV000370345 SCV000436776 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259316 SCV000436777 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000541944 SCV000657155 benign Bethlem myopathy 1 2018-01-10 criteria provided, single submitter clinical testing

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