ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4748-3T>C

dbSNP: rs770762644
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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 RCV001188373 SCV001355428 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770116 SCV004589576 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-06-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010280 SCV004837118 likely benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing

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