ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.6302C>T (p.Thr2101Met) (rs200816828)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252999 SCV000319607 uncertain significance Cardiovascular phenotype 2015-12-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Co-occurence with mutation in same gene (phase unknown)
Center for Medical Genetics Ghent,University of Ghent RCV000663860 SCV000787218 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing
Color RCV000777822 SCV000913818 likely benign Thoracic aortic aneurysm and aortic dissection 2018-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000841386 SCV000983349 likely benign not provided 2018-04-02 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 RCV000524983 SCV000627960 likely benign Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2017-07-31 criteria provided, single submitter clinical testing

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