ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.5369-10T>G (rs373584324)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079067 SCV000560693 likely benign Aortic aneurysm, familial thoracic 7 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000523268 SCV000619281 uncertain significance not provided 2018-12-07 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYLK gene. The c.5369-10 T>G variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 43/126,062 alleles (0.03%) from individuals of European (Non-Finnish) ancestry in large population cohorts (Lek et al., 2016). Although the c.5369-10 T>G variant is predicted to decrease the natural splice acceptor site in intron 32 and may lead to abnormal gene splicing, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659952 SCV000781856 uncertain significance Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing

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