ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8616A>G (p.Ter2872=)

gnomAD frequency: 0.00003  dbSNP: rs374499193
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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 RCV000560892 SCV000628011 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001722461 SCV000719882 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177892 SCV001342191 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001177892 SCV002679963 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-09-17 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 RCV004003797 SCV004844878 likely benign Marfan syndrome 2023-11-20 criteria provided, single submitter clinical testing

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