ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6852T>C (p.Pro2284=)

gnomAD frequency: 0.00005  dbSNP: rs201226058
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426936 SCV000513003 benign not specified 2016-03-30 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.
Eurofins Ntd Llc (ga) RCV000726715 SCV000702366 uncertain significance not provided 2016-11-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170302 SCV001332871 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170302 SCV001342776 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061391 SCV002484163 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170302 SCV002662842 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-07-15 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.
CeGaT Center for Human Genetics Tuebingen RCV000726715 SCV002822180 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing FBN1: BP4, BP7
All of Us Research Program, National Institutes of Health RCV003995959 SCV004822422 likely benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing

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