ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) (rs113491038)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245712 SCV000320581 likely benign Cardiovascular phenotype 2018-01-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
Center for Human Genetics, Inc RCV000680571 SCV000807986 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000609787 SCV000714076 benign not specified 2018-02-26 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 RCV000464822 SCV000560689 benign Aortic aneurysm, familial thoracic 7 2017-12-15 criteria provided, single submitter clinical testing

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