ClinVar Genomic variation as it relates to human health
NM_152730.6(TBC1D32):c.2200C>T (p.Arg734Ter)
Germline
Classification
(3)
Pathogenic/Likely pathogenic
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 | |||
TBC1D32 | - | - |
GRCh38 GRCh37 |
207 | 237 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 23, 2022 | RCV003225655.1 | |
Likely pathogenic (1) |
|
Jun 10, 2022 | RCV003985116.1 | |
Pathogenic (1) |
|
Jun 6, 2023 | RCV003994535.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024