ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8466A>G (p.Pro2822=)

gnomAD frequency: 0.00001  dbSNP: rs147279938
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001375612 SCV001572526 likely benign not specified 2021-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070251 SCV002437770 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-09-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528295 SCV004363555 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006846 SCV004836836 likely benign Marfan syndrome 2023-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003528295 SCV005113142 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-05-30 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.

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