ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.846G>A (p.Val282=)

dbSNP: rs2043994063
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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 RCV001187450 SCV001354266 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001395831 SCV001597548 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-04-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008700 SCV004823102 likely benign Marfan syndrome 2023-06-26 criteria provided, single submitter clinical testing

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