ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.3270C>T (p.Asp1090=) (rs113781746)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416096 SCV000493437 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153098 SCV000202555 likely benign not specified 2014-03-10 criteria provided, single submitter clinical testing
GeneDx RCV000153098 SCV000532094 likely benign not specified 2017-12-13 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 RCV000277957 SCV000428825 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000547253 SCV000657287 benign Bethlem myopathy 1 2017-12-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000153098 SCV000310164 likely benign not specified criteria provided, single submitter clinical testing

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