ClinVar Genomic variation as it relates to human health
NM_003482.4(KMT2D):c.6066C>T (p.Leu2022=)
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 |
5345 | 5562 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Apr 6, 2023 | RCV003064839.2 | |
KMT2D-related disorder
|
Likely benign (1) |
|
Sep 2, 2020 | RCV004536558.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024