ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.9147C>T (p.Leu3049=) (rs183247300)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726315 SCV000343705 uncertain significance not provided 2016-07-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312400 SCV000428697 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000276562 SCV000534384 likely benign not specified 2016-12-07 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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