ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2535G>C (p.Leu845=)

gnomAD frequency: 0.00001  dbSNP: rs376763868
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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 RCV001177754 SCV001342018 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001478536 SCV001682807 likely benign Aortic aneurysm, familial thoracic 4 2024-05-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001177754 SCV004823556 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-11-02 criteria provided, single submitter clinical testing

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