ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.807C>T (p.Phe269=)

dbSNP: rs1963052117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185360 SCV001351555 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008527 SCV004815388 likely benign Aneurysm-osteoarthritis syndrome 2023-12-01 criteria provided, single submitter clinical testing

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