ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.7596G>A (p.Lys2532=) (rs2291795)

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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 RCV000080995 SCV000112902 benign not specified 2012-08-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080995 SCV000150854 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080995 SCV000310223 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367078 SCV000428744 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000080995 SCV000519378 benign not specified 2016-01-25 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.
Athena Diagnostics Inc RCV000576689 SCV000677205 benign Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 2017-06-19 criteria provided, single submitter clinical testing

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