ClinVar Genomic variation as it relates to human health
NM_022436.3(ABCG5):c.1180C>A (p.Leu394Met)
Germline
Classification
(2)
Uncertain significance
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 | |||
ABCG5 | - | - |
GRCh38 GRCh37 |
181 | 744 | |
DYNC2LI1 | - | - |
GRCh38 GRCh37 |
168 | 689 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 12, 2022 | RCV002664021.9 | |
Uncertain significance (1) |
|
Apr 3, 2023 | RCV004072105.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 27, 2024