ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4404C>T (p.Phe1468=)

dbSNP: rs780479561
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000632037 SCV000753140 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190263 SCV001357714 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002222566 SCV002500504 likely benign not specified 2022-03-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003820 SCV004814731 likely benign Marfan syndrome 2023-06-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190263 SCV005032431 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-11 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.

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