ClinVar Genomic variation as it relates to human health
NM_004483.5(GCSH):c.97C>G (p.Leu33Val)
Germline
Classification
(1)
Uncertain significance
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 | |||
GCSH | - | - |
GRCh38 GRCh38 GRCh37 |
71 | 191 | |
LOC130059495 | - | - | - |
GRCh38 GRCh38 |
- | 77 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 7, 2024 | RCV004387528.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024