ClinVar Genomic variation as it relates to human health
NM_001330063.2(ANKFY1):c.2584G>A (p.Gly862Arg)
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 | |||
ANKFY1 | - | - |
GRCh38 GRCh37 |
124 | 180 | |
LOC126862466 | - | - | - | GRCh38 | - | 30 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
ANKFY1-related disorder
|
Uncertain significance (1) |
|
Dec 21, 2022 | RCV003420540.4 |
Uncertain significance (1) |
|
Oct 12, 2021 | RCV004247130.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 02, 2024