ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)

dbSNP: rs869025408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208162 SCV000263903 likely pathogenic Marfan syndrome 2015-06-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170766 SCV001333372 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-07-17 criteria provided, single submitter clinical testing
Centre of Medical Genetics, University of Antwerp RCV000208162 SCV002025332 likely pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PS1, PP4

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