ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) (rs377338217)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035195 SCV000058837 likely benign not specified 2015-01-21 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000035195 SCV000233819 likely benign not specified 2017-06-01 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.
Fulgent Genetics,Fulgent Genetics RCV000515216 SCV000611390 uncertain significance Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000536927 SCV000627910 benign not provided 2018-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618340 SCV000738755 likely benign Cardiovascular phenotype 2017-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770669 SCV000902128 likely benign Thoracic aortic aneurysm and aortic dissection 2017-06-13 criteria provided, single submitter clinical testing
Color RCV000770669 SCV000913837 likely benign Thoracic aortic aneurysm and aortic dissection 2018-10-19 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent,University of Ghent RCV000663715 SCV000787051 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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