ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5184G>A (p.Ala1728=)

gnomAD frequency: 0.00001  dbSNP: rs754660497
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179815 SCV001344598 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068256 SCV002403561 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001179815 SCV002643735 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-10-27 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.
All of Us Research Program, National Institutes of Health RCV004006603 SCV004814670 likely benign Marfan syndrome 2023-03-23 criteria provided, single submitter clinical testing

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