ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) (rs61746932)

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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 RCV000146977 SCV000194313 benign not specified 2016-08-29 criteria provided, single submitter clinical testing
Invitae RCV000228563 SCV000287950 benign Joubert syndrome; Oral-facial-digital syndrome 2017-09-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146977 SCV000309723 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000715650 SCV000846480 benign History of neurodevelopmental disorder 2016-01-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000839199 SCV000981085 benign not provided 2018-05-10 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.

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