The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_001754.5(RUNX1):c.98-20_98-18del
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA658799414
517187 (ClinVar)
Gene: RUNX1
Condition: hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Inheritance Mode: Autosomal dominant inheritance
UUID: a25c99de-f2c1-46a5-a581-84790919971a
Approved on: 2024-08-12
Published on: 2024-08-12
HGVS expressions
NM_001754.5:c.98-20_98-18del
NM_001754.5(RUNX1):c.98-20_98-18del
NC_000021.9:g.34887118_34887120del
CM000683.2:g.34887118_34887120del
NC_000021.8:g.36259415_36259417del
CM000683.1:g.36259415_36259417del
NC_000021.7:g.35181285_35181287del
NG_011402.2:g.1102596_1102598del
ENST00000675419.1:c.98-20_98-18del
ENST00000300305.7:c.98-20_98-18del
ENST00000344691.8:c.-4_-2del
ENST00000358356.9:c.-4_-2del
ENST00000399237.6:c.62-20_62-18del
ENST00000399240.5:c.-4_-2del
ENST00000437180.5:c.98-20_98-18del
ENST00000455571.5:c.59-20_59-18del
ENST00000475045.6:c.98-20_98-18del
ENST00000482318.5:c.59-6403_59-6401del
NM_001001890.2:c.-4_-2del
NM_001122607.1:c.-4_-2del
NM_001754.4:c.98-20_98-18del
NM_001001890.3:c.-4_-2del
NM_001122607.2:c.-4_-2del
More
Evidence submitted by expert panel
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. If you have questions about the information contained on this website, please see a health care professional.