ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3294-13C>G

gnomAD frequency: 0.00026  dbSNP: rs143110271
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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 RCV001180905 SCV001345957 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558978 SCV003519968 likely benign Aortic aneurysm, familial thoracic 4 2024-11-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001180905 SCV004821450 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-05 criteria provided, single submitter clinical testing

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