ClinVar Genomic variation as it relates to human health
NM_000414.4(HSD17B4):c.550A>G (p.Lys184Glu)
Germline
Classification
(2)
Uncertain significance
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 | |||
HSD17B4 | - | - |
GRCh38 GRCh37 |
1275 | 1331 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 23, 2022 | RCV003074834.2 | |
Uncertain significance (1) |
|
Aug 16, 2022 | RCV003078971.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024