ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4491C>G (p.Cys1497Trp)

dbSNP: rs2043341481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806334 SCV002053853 likely pathogenic Marfan syndrome criteria provided, single submitter research
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001806334 SCV002102962 likely pathogenic Marfan syndrome 2021-07-08 criteria provided, single submitter clinical testing

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