ClinVar Genomic variation as it relates to human health
NM_001001344.3(ATP2B3):c.472G>T (p.Ala158Ser)
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 | |||
ATP2B3 | - | - |
GRCh38 GRCh37 |
164 | 378 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 3, 2023 | RCV003649419.1 | |
Uncertain significance (1) |
|
Nov 29, 2021 | RCV003010751.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024