ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1470C>A (p.Thr490=)

gnomAD frequency: 0.00001  dbSNP: rs759428938
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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 RCV001184188 SCV001350107 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067946 SCV002434087 likely benign Aortic aneurysm, familial thoracic 4 2023-06-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001184188 SCV004816782 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-30 criteria provided, single submitter clinical testing

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