ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) (rs113066678)

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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 RCV000416212 SCV000493423 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080924 SCV000112831 benign not specified 2012-11-05 criteria provided, single submitter clinical testing
GeneDx RCV000080924 SCV000527696 likely benign not specified 2018-03-16 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 RCV000379631 SCV000428833 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000551906 SCV000657282 benign Bethlem myopathy 1 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000080924 SCV000310160 likely benign not specified criteria provided, single submitter clinical testing

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