ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1196G>A (p.Ser399Asn) (rs2839110)

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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 RCV000079842 SCV000111725 benign not specified 2012-07-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079842 SCV000150801 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079842 SCV000308252 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323060 SCV000436675 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382221 SCV000436676 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079842 SCV000512730 benign not specified 2016-01-05 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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