ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4170G>A (p.Leu1390=)

gnomAD frequency: 0.00001  dbSNP: rs1229052328
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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 RCV000774521 SCV000908224 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768379 SCV004573510 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-03-16 criteria provided, single submitter clinical testing

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