ClinVar Genomic variation as it relates to human health
NM_001017970.3(TMEM30B):c.19G>A (p.Ala7Thr)
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 | |||
PRKCH | - | - |
GRCh38 GRCh37 |
31 | 100 | |
TMEM30B | - | - |
GRCh38 GRCh37 |
- | 57 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 28, 2024 | RCV004467778.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024