ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.3043A>C (p.Ile1015Leu) (rs11910483)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000224012 SCV000841208 benign not provided 2017-12-20 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224012 SCV000281401 benign not provided 2015-06-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079891 SCV000111774 benign not specified 2012-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000079891 SCV000532929 benign not specified 2016-10-14 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 RCV000333824 SCV000436838 benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353550 SCV000436839 benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341066 SCV000483966 likely benign GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000528727 SCV000657197 benign Bethlem myopathy 1 2017-12-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079891 SCV000308309 benign not specified criteria provided, single submitter clinical testing

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