ClinVar Genomic variation as it relates to human health
NM_182931.3(KMT2E):c.1112A>G (p.Asn371Ser)
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
KMT2E | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
924 | 956 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
KMT2E-related disorder
|
Uncertain significance (1) |
|
Sep 4, 2024 | RCV004728597.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024