ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5423-30_5423-28del

dbSNP: rs56354352
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514892 SCV001722851 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001597282 SCV001831596 benign not provided 2020-06-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19293843)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529521 SCV001743107 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001597282 SCV001960061 likely benign not provided no assertion criteria provided clinical testing

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