ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2646G>A (p.Ala882=)

dbSNP: rs376040442
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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 RCV000781371 SCV000919350 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001427762 SCV001630447 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-11-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001524341 SCV001734152 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001524341 SCV002739006 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-11-24 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 RCV004001531 SCV004814886 likely benign Marfan syndrome 2024-01-08 criteria provided, single submitter clinical testing

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