ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.471T>C (p.His157=)

gnomAD frequency: 0.00021  dbSNP: rs137952617
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001433579 SCV001636370 likely benign Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2022-11-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003403473 SCV004136296 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing MEIS2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003937927 SCV004747366 likely benign MEIS2-related condition 2019-03-29 criteria provided, single submitter 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.