ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.1613C>T (p.Thr538Met) (rs34741387)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000116795 SCV000150825 uncertain significance not provided 2014-01-21 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000243539 SCV000310145 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000243539 SCV000529239 benign not specified 2018-01-18 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.
Invitae RCV001083188 SCV000657254 benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing

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