ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.5114+7A>G (rs1553774672)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648758 SCV000770579 likely benign Aortic aneurysm, familial thoracic 7 2017-10-12 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770610 SCV000902060 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-04-20 criteria provided, single submitter clinical testing

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