ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3756T>G (p.Gly1252=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005226436 SCV005864588 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2025-01-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV005403479 SCV006064472 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-25 criteria provided, single submitter clinical testing

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