ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.5001C>T (p.Asn1667=) (rs375038682)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770611 SCV000902061 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-04-05 criteria provided, single submitter clinical testing
GeneDx RCV000245685 SCV000726353 likely benign not specified 2018-01-03 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 RCV000648747 SCV000770568 likely benign Aortic aneurysm, familial thoracic 7 2017-11-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000245685 SCV000315311 likely benign not specified criteria provided, single submitter clinical testing

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