ClinVar Genomic variation as it relates to human health
NM_001199198.3(TBC1D23):c.1687+2T>G
Germline
Classification
(2)
Pathogenic
no assertion criteria provided
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 | |||
TBC1D23 | - | - |
GRCh38 GRCh37 |
87 | 98 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 29, 2017 | RCV000508992.1 | |
Pathogenic (1) |
|
Jan 2, 2016 | RCV000515797.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2023