ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) (rs113124819)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253600 SCV000315290 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000828385 SCV000770580 likely benign not provided 2018-12-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770620 SCV000902071 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000828385 SCV000970071 likely benign not provided 2018-06-06 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.

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