ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) (rs368822172)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619306 SCV000739260 uncertain significance Cardiovascular phenotype 2017-07-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000311628 SCV000900728 uncertain significance Thoracic aortic aneurysm and aortic dissection 2017-09-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592069 SCV000705421 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311628 SCV000440350 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000415686 SCV000650528 likely benign Aortic aneurysm, familial thoracic 7 2017-06-09 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415686 SCV000493773 uncertain significance Aortic aneurysm, familial thoracic 7 2015-09-26 criteria provided, single submitter clinical testing

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