ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3012C>T (p.Tyr1004=)

dbSNP: rs397515784
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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 RCV001179977 SCV001344787 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068264 SCV002413756 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-06-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006617 SCV004814844 likely benign Marfan syndrome 2023-04-03 criteria provided, single submitter clinical testing

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