ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.588+8C>G (rs398123638)

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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 RCV000723505 SCV000111703 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000079820 SCV000715197 likely benign not specified 2018-02-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000373411 SCV000436487 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000526549 SCV000657071 benign Bethlem myopathy 1 2017-06-05 criteria provided, single submitter clinical testing

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