ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) (rs150936840)

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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 RCV000618017 SCV000739328 likely benign Cardiovascular phenotype 2018-05-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV000294908 SCV000440318 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
UCLA Clinical Genomics Center, UCLA RCV000198643 SCV000255420 likely pathogenic Aortic aneurysm, familial thoracic 7 2013-01-29 criteria provided, single submitter clinical testing

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