ClinVar Genomic variation as it relates to human health
NM_007192.4(SUPT16H):c.51G>A (p.Leu17=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
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 | |||
SUPT16H | No evidence available | No evidence available |
GRCh38 GRCh37 |
82 | 142 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SUPT16H-related disorder
|
Likely benign (1) |
|
Apr 29, 2020 | RCV003954907.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024