ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5296+12C>T

gnomAD frequency: 0.00009  dbSNP: rs566030960
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438402 SCV000521592 likely benign not specified 2015-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810921 SCV001477901 likely benign not provided 2020-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062448 SCV002428649 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-10-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000438402 SCV005727188 likely benign not specified 2024-11-04 criteria provided, single submitter clinical testing

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