ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4791+4C>T (rs142108062)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126957 SCV000170488 benign not specified 2013-02-01 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.
Ambry Genetics RCV000251540 SCV000317886 benign Cardiovascular phenotype 2015-10-21 criteria provided, single submitter clinical testing
Invitae RCV000462973 SCV000556122 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659923 SCV000781827 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769660 SCV000901068 benign Thoracic aortic aneurysm and aortic dissection 2016-06-19 criteria provided, single submitter clinical testing
Color RCV000769660 SCV000903665 benign Thoracic aortic aneurysm and aortic dissection 2018-03-07 criteria provided, single submitter clinical testing

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