ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7071C>T (p.Pro2357=)

gnomAD frequency: 0.00001  dbSNP: rs397515843
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035262 SCV000058909 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001182482 SCV000319746 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-06-09 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.
Color Diagnostics, LLC DBA Color Health RCV001182482 SCV001347944 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001418298 SCV001620523 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-06-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996194 SCV004822406 likely benign Marfan syndrome 2023-10-27 criteria provided, single submitter clinical testing

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