ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.652C>T (p.Leu218=) (rs113035707)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246667 SCV000315317 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248580 SCV000319374 benign Cardiovascular phenotype 2015-02-11 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000246667 SCV000533278 benign not specified 2016-12-01 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 RCV001000298 SCV000560692 benign Aortic aneurysm, familial thoracic 7 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769343 SCV000900726 benign Familial thoracic aortic aneurysm and aortic dissection 2017-09-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000298 SCV001156974 benign Aortic aneurysm, familial thoracic 7 2019-03-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000246667 SCV001362527 benign not specified 2019-10-15 criteria provided, single submitter clinical testing

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