ClinVar Genomic variation as it relates to human health
NM_003482.4(KMT2D):c.16212C>T (p.Ser5404=)
Germline
Classification
(2)
Benign/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 | |||
KMT2D | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
5250 | 5462 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Sep 3, 2023 | RCV002909023.2 | |
Likely benign (1) |
|
Jun 17, 2021 | RCV003898583.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024