ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.33G>T (p.Glu11Asp)

gnomAD frequency: 0.00002  dbSNP: rs148562366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549599 SCV000641023 likely benign Aortic aneurysm, familial thoracic 4 2024-10-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001189673 SCV001357013 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001591235 SCV001815336 likely benign not provided 2020-03-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30056620)
All of Us Research Program, National Institutes of Health RCV001189673 SCV004816905 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-06-09 criteria provided, single submitter clinical testing

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