ClinVar Genomic variation as it relates to human health
NM_000293.3(PHKB):c.1409A>G (p.Tyr470Cys)
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 | |||
PHKB | - | - |
GRCh38 GRCh37 |
911 | 1020 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 28, 2022 | RCV003072119.1 | |
Uncertain significance (1) |
|
Oct 20, 2022 | RCV003083774.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 13, 2023