ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2349T>C (p.Asn783=)

gnomAD frequency: 0.00001  dbSNP: rs1057522903
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438387 SCV000529913 likely benign not specified 2016-07-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000632059 SCV000753162 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2019-01-12 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179858 SCV001344647 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000480 SCV004814903 likely benign Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing

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