ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2655G>A (p.Leu885=)

dbSNP: rs760141485
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189104 SCV001356308 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001440084 SCV001642988 likely benign Aortic aneurysm, familial thoracic 4 2022-09-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001189104 SCV003838492 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-06-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001189104 SCV004823547 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-20 criteria provided, single submitter clinical testing

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