ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.1182+3G>A (rs62215499)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000437375 SCV000609060 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437375 SCV000511713 likely benign not provided 2016-10-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153079 SCV000202535 benign not specified 2014-03-10 criteria provided, single submitter clinical testing
GeneDx RCV000153079 SCV000196767 likely benign not specified 2017-07-31 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 RCV000269389 SCV000436508 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000530389 SCV000656977 likely benign Bethlem myopathy 1 2018-01-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000153079 SCV000308157 likely benign not specified criteria provided, single submitter clinical testing

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