ClinVar Genomic variation as it relates to human health
NM_022089.4(ATP13A2):c.900A>C (p.Pro300=)
Germline
Classification
(2)
Likely benign
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 | |||
ATP13A2 | - | - |
GRCh38 GRCh38 GRCh37 |
1030 | 1065 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 18, 2023 | RCV003782899.1 | |
Likely benign (1) |
|
Dec 1, 2023 | RCV003885374.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024