ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1719T>C (p.Thr573=)

gnomAD frequency: 0.00002  dbSNP: rs759846780
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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 RCV001188659 SCV001355757 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001403801 SCV001605686 likely benign Aortic aneurysm, familial thoracic 4 2021-12-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001188659 SCV004823648 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-12-13 criteria provided, single submitter clinical testing

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