ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4503C>T (p.Asn1501=)

dbSNP: rs2043341420
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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 RCV001176477 SCV001340466 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001466506 SCV001670508 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-02-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006302 SCV004814720 likely benign Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing

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