ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2364T>C (p.Asp788=)

gnomAD frequency: 0.00001  dbSNP: rs747024924
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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 RCV001184621 SCV001350646 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001184621 SCV004823573 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005093897 SCV005819017 likely benign Aortic aneurysm, familial thoracic 4 2024-11-13 criteria provided, single submitter clinical testing

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