ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2669C>T (p.Ser890Leu) (rs13051496)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079802 SCV000111685 benign not specified 2014-10-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079802 SCV000150792 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079802 SCV000308209 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277216 SCV000436571 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576539 SCV000677193 benign Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000079802 SCV000717602 benign not specified 2017-10-19 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.

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