ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3448+15G>A (rs199789942)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000219991 SCV000717483 benign not specified 2017-07-10 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 RCV000284724 SCV000440298 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219991 SCV000269300 benign not specified 2015-09-16 criteria provided, single submitter clinical testing c.3448+15G>A in intron 18 of MYLK: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 1.1% (181/16508) of South Asian chromosomes in cluding 4 homozygous individuals by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org/; dbSNP rs199789942).

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