ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.444C>T (p.Thr148=) (rs773689002)

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
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV000374908 SCV000965644 likely benign Familial platelet disorder with associated myeloid malignancy 2019-07-26 reviewed by expert panel curation The NM_001754.4:c.444C>T (p.Thr148=) variant is a synonymous variant that is predicted by SSF and MES to lead to either an increase in the canonical splice site score or a decrease of the canonical splice site score by no more than 10% and no putative cryptic splice sites are created (BP4). In addition, evolutionary conservation prediction algorithms predict the site as not being highly conserved (PhyloP score -4.3832 < 0.1) (BP7). In summary, this variant meets criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the ClinGen Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BP4, BP7.
Illumina Clinical Services Laboratory,Illumina RCV000374908 SCV000435949 uncertain significance Familial platelet disorder with associated myeloid malignancy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000374908 SCV000761123 likely benign Familial platelet disorder with associated myeloid malignancy 2017-09-18 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.