ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1599G>A (p.Glu533=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002398581 SCV002707288 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-08-07 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 RCV003100740 SCV002940010 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-06-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV002398581 SCV004357467 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007337 SCV004823042 likely benign Marfan syndrome 2023-11-20 criteria provided, single submitter clinical testing

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