ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4289-4C>G (rs376670657)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620551 SCV000738361 likely benign Cardiovascular phenotype 2017-08-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000214485 SCV000705111 benign not specified 2017-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000214485 SCV000535618 likely benign not specified 2017-09-27 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.
Invitae RCV000234085 SCV000291200 benign Aortic aneurysm, familial thoracic 7 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214485 SCV000269307 benign not specified 2013-04-04 criteria provided, single submitter clinical testing 4289-4C>G in intron 24 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 0.6% (27/4406) of African American chromosomes fr om a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS).

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