ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.5368+13_5368+21del (rs146990616)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484052 SCV000569579 benign not specified 2017-11-27 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.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659951 SCV000781855 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001500 SCV001158795 benign Aortic aneurysm, familial thoracic 7 2018-07-14 criteria provided, single submitter clinical testing

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