ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.3937G>A (p.Gly1313Ser) (rs1156984408)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent,University of Ghent RCV000663675 SCV000787006 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf RCV000766246 SCV000897664 likely pathogenic Thoracic aortic aneurysm and aortic dissection 2018-11-20 criteria provided, single submitter clinical testing Variant annotated in HGMD as DM has been associated with an alternative phenotype, i.e. severe adolescent idiopathoc scoliosis.

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