ClinVar Genomic variation as it relates to human health
NM_005689.4(ABCB6):c.2425G>A (p.Glu809Lys)
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 | |||
ABCB6 | - | - |
GRCh38 GRCh37 |
192 | 226 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 5, 2022 | RCV002958092.2 | |
Uncertain significance (1) |
|
Apr 7, 2022 | RCV002958093.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024