ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4842G>A (p.Leu1614=)

dbSNP: rs2151206445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001444261 SCV001647257 likely benign Aortic aneurysm, familial thoracic 4 2020-08-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528301 SCV004359340 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-04-17 criteria provided, single submitter clinical testing

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