ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.2769C>T (p.His923=) (rs140419176)

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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 RCV000585142 SCV000693067 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079886 SCV000111769 benign not specified 2012-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000079886 SCV000512734 likely benign not specified 2017-10-16 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 RCV000402270 SCV000436808 likely benign Myosclerosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298848 SCV000436809 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000535133 SCV000657172 benign Bethlem myopathy 1 2018-01-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000079886 SCV000308305 benign not specified criteria provided, single submitter clinical testing

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