ClinVar Genomic variation as it relates to human health
NM_002480.3(PPP1R12A):c.1219C>A (p.Pro407Thr)
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 | |||
PPP1R12A | - | - |
GRCh38 GRCh37 |
144 | 169 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 16, 2024 | RCV003572901.1 | |
Uncertain significance (1) |
|
Oct 27, 2023 | RCV004368973.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024