ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6998-7C>T

gnomAD frequency: 0.00002  dbSNP: rs764823572
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001397446 SCV001599193 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-09-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528296 SCV004357329 benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006874 SCV004832342 benign Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing

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