ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.786C>T (p.Leu262=) (rs111481402)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726442 SCV000344665 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406436 SCV000428882 uncertain significance Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000327473 SCV000534916 likely benign not specified 2016-12-16 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.
Invitae RCV000557050 SCV000657414 likely benign Bethlem myopathy 1 2017-12-08 criteria provided, single submitter clinical testing

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