ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5787-4707C>G (rs111588143)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000857912 SCV000234828 likely benign not provided 2019-06-13 criteria provided, single submitter clinical testing
Invitae RCV000462499 SCV000556085 likely benign Aortic aneurysm, familial thoracic 4 2020-11-21 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000462499 SCV000745468 likely benign Aortic aneurysm, familial thoracic 4 2016-10-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000462499 SCV000745951 likely benign Aortic aneurysm, familial thoracic 4 2015-01-28 criteria provided, single submitter clinical testing
Color Health, Inc RCV000778049 SCV000914164 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-09-06 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000857912 SCV001150813 uncertain significance not provided 2020-06-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000778049 SCV001333411 benign Familial thoracic aortic aneurysm and aortic dissection 2017-11-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000857912 SCV001930274 likely benign not provided no assertion criteria provided clinical testing

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