ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4443C>T (p.Ser1481=)

gnomAD frequency: 0.00026  dbSNP: rs145040593
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001078738 SCV000283626 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726078 SCV000341788 uncertain significance not provided 2016-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000297607 SCV000522930 likely benign not specified 2017-03-08 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.
Ambry Genetics RCV001184770 SCV000738790 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-04-26 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 RCV001184770 SCV001350832 benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001184770 SCV003838353 benign Familial thoracic aortic aneurysm and aortic dissection 2022-04-14 criteria provided, single submitter clinical testing

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