ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3573T>C (p.Asp1191=)

dbSNP: rs150912619
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000855620 SCV000695521 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
GeneDx RCV000588242 SCV000982993 likely benign not provided 2018-03-27 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 RCV001185318 SCV001351506 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005223017 SCV005862758 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-08-19 criteria provided, single submitter clinical testing

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