ClinVar Genomic variation as it relates to human health
NM_170606.3(KMT2C):c.14403C>A (p.Ile4801=)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
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 |
1647 | 1795 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (2) |
|
Dec 21, 2023 | RCV002590208.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024