ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7227T>A (p.Ile2409=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003187810 SCV003863083 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779583 SCV004581527 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-11-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009656 SCV004826026 likely benign Marfan syndrome 2023-05-15 criteria provided, single submitter clinical testing

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