ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.1323G>C (p.Leu441=)

gnomAD frequency: 0.00001  dbSNP: rs1394924518
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV004719177 SCV005326477 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-09-18 reviewed by expert panel curation NM_001754.5(RUNX1):c.1323G>C (p.Leu441=) is a synonymous variant which has a SpliceAI score ≤ 0.20 (0.0) (BP4). This variant has a SpliceAI score ≤ 0.20 (0.0) and evolutionary conservation algorithms predict the site as being not conserved (PhyloP score ≤ 2.0 (1.49) (BP7). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, BP7.
Genetic Services Laboratory, University of Chicago RCV001822770 SCV002065786 uncertain significance not specified 2021-12-01 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.