ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2412-15T>C

gnomAD frequency: 0.00003  dbSNP: rs373833673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176323 SCV001340260 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003514470 SCV004268037 likely benign Aortic aneurysm, familial thoracic 4 2023-05-24 criteria provided, single submitter clinical testing

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