ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.4006G>A (p.Val1336Ile) (rs144051775)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202790 SCV000257955 uncertain significance not specified 2015-07-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000202790 SCV000331369 benign not specified 2015-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000202790 SCV000528292 likely benign not specified 2017-01-11 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.
Invitae RCV000539163 SCV000657301 likely benign Bethlem myopathy 1 2017-10-24 criteria provided, single submitter clinical testing

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