ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1804+8C>T (rs820355)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218807 SCV000269291 benign not specified 2013-04-04 criteria provided, single submitter clinical testing 1804+8C>T in intron 13 of MYLK: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 26.5% (1160/4378) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs820355).
PreventionGenetics,PreventionGenetics RCV000218807 SCV000315273 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278878 SCV000440324 likely benign Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000218807 SCV000524300 benign not specified 2016-09-22 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.
Integrated Genetics/Laboratory Corporation of America RCV000586651 SCV000699791 benign not provided 2016-02-12 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000607430 SCV000734240 benign Aortic aneurysm, familial thoracic 7 no assertion criteria provided clinical testing

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