ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.347-19CTT[2]

dbSNP: rs756583965
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001181798 SCV001347024 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-06 criteria provided, single submitter clinical testing
GeneDx RCV001555652 SCV001777101 likely benign not provided 2023-08-24 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559006 SCV003481978 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-11 criteria provided, single submitter clinical testing

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