ClinVar Genomic variation as it relates to human health
NM_144572.2(TBC1D2B):c.23C>G (p.Ala8Gly)
Germline
Classification
(1)
Benign
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 | |||
LOC130057679 | - | - | - | GRCh38 | - | 11 |
TBC1D2B | - | - |
GRCh38 GRCh37 |
79 | 113 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
TBC1D2B-related disorder
|
Benign (1) |
|
Mar 24, 2022 | RCV003932094.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024