ClinVar Genomic variation as it relates to human health
NM_001754.5(RUNX1):c.968del (p.Thr323fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Likely pathogenic
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 |
1250 | 1603 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 9, 2023 | RCV003448649.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 25, 2023