ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182483 SCV000234828 likely benign not specified 2014-09-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000462499 SCV000556085 likely benign Aortic aneurysm, familial thoracic 4 2019-12-31 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000462499 SCV000745468 likely benign Aortic aneurysm, familial thoracic 4 2016-10-19 criteria provided, single submitter clinical testing
Color 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 2019-07-01 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,VU University Medical Center Amsterdam RCV000462499 SCV000745951 likely benign Aortic aneurysm, familial thoracic 4 2015-01-28 no assertion criteria provided clinical testing

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