ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5671+7A>G

gnomAD frequency: 0.00003  dbSNP: rs751170564
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798956 SCV002042003 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767934 SCV004604967 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-05-21 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent, University of Ghent RCV000663804 SCV000787155 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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