ClinVar Genomic variation as it relates to human health
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
Germline
Classification
(4)
Conflicting classifications of pathogenicity
Pathogenic(1); Likely pathogenic(1); Uncertain significance(2)
Pathogenic(1); Likely pathogenic(1); Uncertain significance(2)
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 | |||
ABCB4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
934 | 993 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Conflicting interpretations of pathogenicity (3) |
|
Nov 22, 2023 | RCV003037234.16 | |
Pathogenic (1) |
|
Jan 1, 2020 | RCV003485807.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024