ClinVar Genomic variation as it relates to human health
NM_001396959.1(TBC1D1):c.3057G>A (p.Gln1019=)
Germline
Classification
(1)
Likely benign
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 | |||
TBC1D1 | - | - |
GRCh38 GRCh37 |
128 | 176 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
TBC1D1-related disorder
|
Likely benign (1) |
|
Feb 2, 2022 | RCV003967174.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 13, 2024