ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4365+9C>T

gnomAD frequency: 0.00001  dbSNP: rs571613839
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641584 SCV000763226 likely benign Aortic aneurysm, familial thoracic 4 2025-01-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001579861 SCV001471477 likely benign not provided 2019-10-11 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV004584399 SCV002577875 uncertain significance See cases 2021-12-13 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579861 SCV001808772 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579861 SCV001973689 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579861 SCV001978281 likely benign not provided no assertion criteria provided clinical testing

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