ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5066-14del

dbSNP: rs3833018
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001192066 SCV001360011 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560140 SCV003522918 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-04 criteria provided, single submitter clinical testing

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