ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) (rs61735828)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000241637 SCV000613010 likely benign not specified 2017-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000241637 SCV000718412 benign not specified 2018-01-18 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 RCV000305962 SCV000436689 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360804 SCV000436690 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000526158 SCV000657108 benign Bethlem myopathy 1 2017-12-26 criteria provided, single submitter clinical testing
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000526158 SCV000882605 likely pathogenic Bethlem myopathy 1 2018-10-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241637 SCV000308258 benign not specified criteria provided, single submitter clinical testing

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