ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3639G>A (p.Val1213=)

gnomAD frequency: 0.00014  dbSNP: rs148419939
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000534286 SCV000650542 likely benign Aortic aneurysm, familial thoracic 7 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001579511 SCV000716266 likely benign not provided 2021-09-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170119 SCV000739310 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170119 SCV001332658 benign Familial thoracic aortic aneurysm and aortic dissection 2018-05-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586784 SCV005076009 benign not specified 2024-04-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579511 SCV001807508 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579511 SCV001953323 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003945285 SCV004761840 likely benign MYLK-related disorder 2021-05-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.