ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.352-12_352-9del

dbSNP: rs2146364222
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 RCV004699394 SCV005205613 uncertain significance Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-09-12 reviewed by expert panel curation NM_001754.5(RUNX1):c.352-12_352-9del is an intronic deletion outside of the typical splicing region. It is not predicted to impact splicing, with a SpliceAI score ≤ 0.20 (0.01) (BP4). This variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2_Supporting). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2_Supporting, BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001479897 SCV001684203 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2020-10-21 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.