ClinVar Miner

Submissions for variant NM_006579.3(EBP):c.382C>T (p.Leu128=) (rs142881014)

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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 RCV000145939 SCV000193077 uncertain significance Chondrodysplasia punctata 2 X-linked dominant 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594172 SCV000705642 benign not specified 2017-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000594172 SCV000714213 benign not specified 2017-04-25 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 RCV000882695 SCV001025952 benign not provided 2020-11-24 criteria provided, single submitter clinical testing

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