ClinVar Genomic variation as it relates to human health
NM_005689.4(ABCB6):c.2196G>A (p.Lys732=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
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 |
---|---|---|---|---|
ABCB6-related disorder
|
Likely benign (1) |
|
Oct 30, 2019 | RCV003927398.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024