ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) (rs41366751)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756397 SCV000884197 benign not provided 2017-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245853 SCV000320123 benign Cardiovascular phenotype 2015-09-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770617 SCV000902068 likely benign Thoracic aortic aneurysm and aortic dissection 2017-09-07 criteria provided, single submitter clinical testing
GeneDx RCV000441978 SCV000533334 benign not specified 2016-11-04 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 RCV000542503 SCV000650554 benign Aortic aneurysm, familial thoracic 7 2017-10-05 criteria provided, single submitter clinical testing

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