ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4792-7C>T

gnomAD frequency: 0.00001  dbSNP: rs375652279
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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 RCV000641616 SCV000763258 likely benign Aortic aneurysm, familial thoracic 4 2024-03-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190901 SCV001358536 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-08-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001190901 SCV004239424 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001190901 SCV004819095 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-20 criteria provided, single submitter clinical testing

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