ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.759C>T (p.Thr253=) (rs376087730)

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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 RCV000725119 SCV000334245 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298936 SCV000428886 uncertain significance Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000290437 SCV000524047 likely benign not specified 2016-02-18 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 RCV000541727 SCV000657407 likely benign Bethlem myopathy 1 2017-08-31 criteria provided, single submitter clinical testing

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