ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.7205G>A (p.Arg2402His) (rs148014419)

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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 RCV000192472 SCV000247369 uncertain significance not specified 2014-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000192472 SCV000250240 likely benign not specified 2017-12-05 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 RCV000532448 SCV000630253 likely benign Congenital contractural arachnodactyly 2020-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619823 SCV000738962 likely benign Cardiovascular phenotype 2020-08-17 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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