ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2412-9C>G

dbSNP: rs148682361
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704430 SCV000529916 likely benign not provided 2019-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000641638 SCV000763281 likely benign Aortic aneurysm, familial thoracic 4 2023-11-24 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171285 SCV001334006 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-12-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001171285 SCV001350463 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001171285 SCV004819094 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-11 criteria provided, single submitter clinical testing

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