ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.509-12G>A

gnomAD frequency: 0.00003  dbSNP: rs200727741
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 RCV004700627 SCV005205667 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-08-28 reviewed by expert panel curation NM_001754.5(RUNX1):c.509-12G>A is a non-coding (intronic) variant. No splicing impact or creation of cryptic splice sites is predicted by SSF and MES. Splice AI predicts no impact on splicing (score: 0) (BP4). Evolutionary conservation algorithms predict the site as not being conserved (PhyloP score 0.755063 < 2.0) (BP7). This variant was reported in ClinVar in 2023 by Invitae, but the affected status of the proband is unknown (Variation ID 1596540). 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: BP7, BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV002113388 SCV002408413 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-12-02 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.