ClinVar Genomic variation as it relates to human health
NM_001754.5(RUNX1):c.590_597del (p.Val197fs)
Germline
Classification
(2)
Pathogenic
reviewed by expert panel
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
RUNX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1236 | 1578 | |
RUNX1-AS1 | - | - | - | GRCh38 | - | 299 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 22, 2022 | RCV002285101.1 | |
Pathogenic (1) |
|
Dec 9, 2023 | RCV003448458.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 25, 2023