ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) (rs142220417)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618404 SCV000739265 benign Cardiovascular phenotype 2016-03-03 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
Illumina Clinical Services Laboratory,Illumina RCV000306545 SCV000440270 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000457820 SCV000560662 benign Aortic aneurysm, familial thoracic 7 2016-09-02 criteria provided, single submitter clinical testing

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