ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3652+11G>A (rs41271437)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000219718 SCV000525631 benign not specified 2016-10-03 no assertion criteria provided 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.
Illumina Clinical Services Laboratory,Illumina RCV000263705 SCV000440292 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219718 SCV000269303 benign not specified 2013-04-04 criteria provided, single submitter clinical testing 3652+11G>A in intron 20 of MYLK: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 4.5% (386/8598) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs41271437).
PreventionGenetics RCV000219718 SCV000315289 benign not specified criteria provided, single submitter clinical testing

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