ClinVar Genomic variation as it relates to human health
NM_001197104.2(KMT2A):c.3248G>A (p.Arg1083Gln)
Germline
Classification
(2)
Uncertain significance
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 | |||
KMT2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2565 | 2773 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 1, 2023 | RCV003222744.11 | |
Uncertain significance (1) |
|
Mar 14, 2024 | RCV003984869.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 04, 2024