ClinVar Genomic variation as it relates to human health
NM_007192.4(SUPT16H):c.3022GAA[3] (p.Glu1011del)
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 |
81 | 141 | |
LOC126861887 | - | - | - | GRCh38 | - | 24 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
SUPT16H-related disorder
|
Likely benign (1) |
|
Jan 23, 2024 | RCV003901623.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024