ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3654C>T (p.Ser1218=)

gnomAD frequency: 0.00001  dbSNP: rs760712674
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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 RCV001437401 SCV001640254 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160751 SCV003855939 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-15 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.
Color Diagnostics, LLC DBA Color Health RCV003160751 SCV004357402 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007004 SCV004830198 likely benign Marfan syndrome 2023-11-28 criteria provided, single submitter clinical testing

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