ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1566A>G (p.Thr522=)

gnomAD frequency: 0.00002  dbSNP: rs531264662
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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 RCV001190216 SCV001357659 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002069109 SCV002324532 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-02-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010418 SCV004823047 likely benign Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing

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