ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8227-10G>A

gnomAD frequency: 0.00002  dbSNP: rs765093559
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613750 SCV000726590 likely benign not specified 2018-01-10 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 RCV000632041 SCV000753144 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191389 SCV001359205 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498958 SCV002811231 likely benign Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-07-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002582 SCV004830702 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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