ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2653-6G>C

dbSNP: rs200637980
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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 RCV000543043 SCV000641014 likely benign Aortic aneurysm, familial thoracic 4 2024-11-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186901 SCV001353510 benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-10 criteria provided, single submitter clinical testing
GeneDx RCV001712505 SCV001940809 likely benign not provided 2019-08-12 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001186901 SCV004821449 benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-05 criteria provided, single submitter clinical testing

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