ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.2469G>A (p.Thr823=) (rs146662894)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000251672 SCV000229784 likely benign not specified 2018-06-20 criteria provided, single submitter clinical testing
GeneDx RCV000251672 SCV000526434 likely benign not specified 2016-04-27 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 RCV000335709 SCV000436561 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000653663 SCV000775546 likely benign Bethlem myopathy 1 2017-11-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251672 SCV000308201 likely benign not specified criteria provided, single submitter clinical testing

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