ClinVar Genomic variation as it relates to human health
NM_001754.5(RUNX1):c.1092C>G (p.Ile364Met)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Uncertain Significance
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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 26, 2022 | RCV002829355.2 | |
Uncertain significance (1) |
|
Aug 1, 2024 | RCV004695256.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 25, 2024