ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) (rs112913396)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080915 SCV000112822 likely benign not specified 2015-08-17 criteria provided, single submitter clinical testing
GeneDx RCV000080915 SCV000196798 likely benign not specified 2017-07-18 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 RCV000349518 SCV000428858 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000528964 SCV000657257 likely benign Bethlem myopathy 1 2017-12-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585455 SCV000693045 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing

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