ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1140C>T (p.Arg380=) (rs144482400)

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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 RCV000389129 SCV000345336 likely benign not specified 2016-09-06 criteria provided, single submitter clinical testing
GeneDx RCV000389129 SCV000721768 likely benign not specified 2017-08-02 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 RCV000262159 SCV000436671 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321990 SCV000436672 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000653640 SCV000775523 benign Bethlem myopathy 1 2017-12-15 criteria provided, single submitter clinical testing

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