ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1020G>A (p.Glu340=) (rs5979959)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146975 SCV000194310 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146975 SCV000309720 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000476529 SCV000554668 benign Joubert syndrome; Oral-facial-digital syndrome 2017-05-16 criteria provided, single submitter clinical testing
GeneDx RCV000146975 SCV000728873 benign not specified 2017-07-03 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.
Ambry Genetics RCV000716959 SCV000847804 benign History of neurodevelopmental disorder 2015-07-12 criteria provided, single submitter clinical testing

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