ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4285+9G>A (rs75780727)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224824 SCV000281288 benign not provided 2015-06-05 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080937 SCV000112844 benign not specified 2012-11-05 criteria provided, single submitter clinical testing
GeneDx RCV000080937 SCV000523570 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.
Genetic Services Laboratory, University of Chicago RCV000080937 SCV000150839 benign not specified 2015-09-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307885 SCV000428800 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000533723 SCV000657312 benign Bethlem myopathy 1 2017-08-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080937 SCV000310177 likely benign not specified criteria provided, single submitter clinical testing

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