ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) (rs143954823)

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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 RCV000146980 SCV000194316 uncertain significance not provided 2014-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000435088 SCV000533090 likely benign not specified 2016-10-27 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 RCV000471329 SCV000554670 benign Joubert syndrome; Oral-facial-digital syndrome 2017-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000721044 SCV000851929 benign History of neurodevelopmental disorder 2018-01-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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