ClinVar Genomic variation as it relates to human health
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)
Germline
Classification
(3)
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 | |||
ABCB4 | - | - |
GRCh38 GRCh37 |
891 | 944 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 12, 2023 | RCV003333619.1 | |
Uncertain significance (1) |
|
Jul 12, 2023 | RCV003333620.1 | |
Uncertain significance (1) |
|
Apr 29, 2023 | RCV003699068.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024