ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4620-6C>T (rs113607507)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000262439 SCV000902065 likely benign Thoracic aortic aneurysm and aortic dissection 2017-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000214166 SCV000534638 likely benign not specified 2017-09-25 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.
Illumina Clinical Services Laboratory,Illumina RCV000262439 SCV000440275 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000473491 SCV000560670 benign Aortic aneurysm, familial thoracic 7 2017-12-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214166 SCV000270489 likely benign not specified 2015-11-03 criteria provided, single submitter clinical testing c.4620-6C>T in intron 27 of MYLK: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing. It has also been identified in 0.23% (155/66614) of European chromosomes and 0.22% (25/1156 2) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs113607507).
PreventionGenetics RCV000214166 SCV000315304 likely benign not specified criteria provided, single submitter clinical testing

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