ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2253C>T (p.Thr751=) (rs138777049)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621648 SCV000739270 likely benign Cardiovascular phenotype 2016-02-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000382242 SCV000900714 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-23 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000680573 SCV000807988 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000429210 SCV000532279 likely benign not specified 2018-03-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000382242 SCV000440317 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461481 SCV000560651 likely benign Aortic aneurysm, familial thoracic 7 2017-09-06 criteria provided, single submitter clinical testing

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