ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2678-14G>T

dbSNP: rs369475895
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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 RCV001191956 SCV001359898 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005225309 SCV005863709 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-10-13 criteria provided, single submitter clinical testing

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