ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8445C>T (p.Leu2815=)

gnomAD frequency: 0.00024  dbSNP: rs142304692
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439001 SCV000513009 benign not specified 2016-07-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001187602 SCV001354452 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001465250 SCV001669233 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001187602 SCV002679354 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-04-11 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 RCV003995961 SCV004844890 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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