ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) (rs144421849)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000397601 SCV000395231 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460280 SCV000556139 likely benign not provided 2018-12-09 criteria provided, single submitter clinical testing
GeneDx RCV000602257 SCV000719223 likely benign not specified 2018-03-01 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 RCV000618791 SCV000739191 likely benign Cardiovascular phenotype 2018-02-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Does not segregate with disease in family study (genes with incomplete penetrance),Subpopulation frequency in support of benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769658 SCV000901066 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-04-18 criteria provided, single submitter clinical testing
Color RCV000769658 SCV000911316 likely benign Thoracic aortic aneurysm and aortic dissection 2018-07-22 criteria provided, single submitter clinical testing

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