ClinVar Genomic variation as it relates to human health
NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)
Germline
Classification
(2)
Pathogenic
criteria provided, single submitter
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 | |||
KMT2C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1586 | 1730 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV001257012.1 | |
Pathogenic (1) |
|
Mar 25, 2024 | RCV003989661.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024