ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1147+20T>C

gnomAD frequency: 0.00002  dbSNP: rs746088095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615246 SCV000724352 likely benign not specified 2017-11-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529761 SCV003517484 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-11-21 criteria provided, single submitter clinical testing

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