ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)

dbSNP: rs1566891701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf RCV000766254 SCV000897672 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2018-11-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000766254 SCV003838339 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection 2022-02-04 criteria provided, single submitter clinical testing

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