ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8130C>T (p.Leu2710=)

gnomAD frequency: 0.00002  dbSNP: rs372105662
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001189411 SCV000320384 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-10-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000866199 SCV001007263 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-09-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001189411 SCV001356697 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995729 SCV004844923 likely benign Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing

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