ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.477G>A (p.Arg159=)

dbSNP: rs1456579664
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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 RCV001188548 SCV001355621 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770120 SCV004575582 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-22 criteria provided, single submitter clinical testing

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