ClinVar Genomic variation as it relates to human health
NM_198334.3(GANAB):c.224C>T (p.Thr75Met)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(1)
Uncertain significance(1); Likely benign(1)
criteria provided, conflicting classifications
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 | |||
GANAB | - | - |
GRCh38 GRCh37 |
350 | 367 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 8, 2021 | RCV002293277.1 | |
Likely benign (1) |
|
Oct 19, 2023 | RCV003097814.2 | |
Uncertain significance (1) |
|
Mar 7, 2023 | RCV003164486.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024