ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4578+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002468867 SCV002765059 likely pathogenic Aortic aneurysm, familial thoracic 4 2022-11-22 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1_STR, PS4_SUP, PM2_SUP

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