ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1838-7G>A

gnomAD frequency: 0.00001  dbSNP: rs772849691
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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 RCV001179964 SCV001344774 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769956 SCV004568593 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-03-31 criteria provided, single submitter clinical testing

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