ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3832-6C>T (rs185681684)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000220502 SCV000604382 likely benign not specified 2016-10-12 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659947 SCV000781851 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000220502 SCV000533118 likely benign not specified 2017-11-30 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 RCV000356212 SCV000440291 uncertain significance Thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000234551 SCV000291197 likely benign Aortic aneurysm, familial thoracic 7 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220502 SCV000270488 likely benign not specified 2015-11-03 criteria provided, single submitter clinical testing c.3832-6C>T in intron 22 of MYLK: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing. It has also been identified in 52/66520 European chromosomes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org/; dbSNP rs185681684).
PreventionGenetics RCV000220502 SCV000315292 likely benign not specified criteria provided, single submitter clinical testing

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