ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.19C>T (p.Leu7=)

gnomAD frequency: 0.00002  dbSNP: rs139161583
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658418 SCV001871808 likely benign not provided 2020-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002421231 SCV002721803 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-05-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002539591 SCV003033581 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008956 SCV004826822 likely benign Marfan syndrome 2023-10-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699440 SCV005203214 likely benign not specified 2024-07-08 criteria provided, single submitter clinical testing

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