ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6054C>G (p.Val2018=)

dbSNP: rs542953863
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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 RCV001525288 SCV001735346 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005225409 SCV005862525 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-12-03 criteria provided, single submitter clinical testing

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