ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2168-6G>A

gnomAD frequency: 0.00004  dbSNP: rs200924505
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423220 SCV000535450 likely benign not specified 2016-12-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001472337 SCV001676467 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-08-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528170 SCV004357447 benign Familial thoracic aortic aneurysm and aortic dissection 2022-12-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000571 SCV004828223 benign Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing

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