ClinVar Genomic variation as it relates to human health
NM_005765.3(ATP6AP2):c.858+4A>G
Germline
Classification
(2)
Uncertain significance
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 | |||
ATP6AP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
218 | 379 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 13, 2022 | RCV003622582.2 | |
Uncertain significance (1) |
|
Jan 2, 2024 | RCV004539056.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 25, 2024