ClinVar Miner

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

dbSNP: rs531264662
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000349694 SCV000336917 uncertain significance not provided 2015-12-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528165 SCV004357469 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765618 SCV004603604 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995770 SCV004823046 likely benign Marfan syndrome 2023-06-26 criteria provided, single submitter clinical testing

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