ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) (rs144885184)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215944 SCV000269296 benign not specified 2015-09-16 criteria provided, single submitter clinical testing p.Pro1025Pro in exon 18 of MYLK: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1.1% (187/16510) of South Asian chromosomes including 4 homozygous individuals by the Exome Aggre gation Consortium (ExAC,; dbSNP rs144885184).
PreventionGenetics,PreventionGenetics RCV000215944 SCV000315283 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000475139 SCV000560696 benign Aortic aneurysm, familial thoracic 7 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000215944 SCV000717482 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170122 SCV001332663 benign Familial thoracic aortic aneurysm and aortic dissection 2017-11-02 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.