ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5172-13G>A (rs373378619)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182477 SCV000234822 benign not specified 2014-11-11 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000182477 SCV000270432 likely benign not specified 2015-07-14 criteria provided, single submitter clinical testing c.5193-13G>A in intron 37 of MYH11: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 0.1% (11/11814) of European chromosomes by the Exome Ag gregation Consortium (ExAC,; dbSNP rs373378619).
Illumina Clinical Services Laboratory,Illumina RCV000353968 SCV000395233 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000771355 SCV000903645 benign Thoracic aortic aneurysm and aortic dissection 2018-04-16 criteria provided, single submitter clinical testing

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