ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.2148C>A (p.Pro716=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005164382 SCV005791353 likely benign Aortic aneurysm, familial thoracic 4 2025-01-25 criteria provided, single submitter clinical testing

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