ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2934C>T (p.Asp978=)

dbSNP: rs138438849
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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 RCV001191684 SCV001359580 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001431312 SCV001634066 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-06-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002960 SCV004814850 likely benign Marfan syndrome 2023-06-26 criteria provided, single submitter clinical testing

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