ClinVar Genomic variation as it relates to human health
NM_006258.4(PRKG1):c.700G>A (p.Val234Ile)
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 | |||
PRKG1 | - | - |
GRCh38 GRCh37 |
691 | 744 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 18, 2023 | RCV003427542.4 | |
Uncertain significance (1) |
|
Jul 14, 2022 | RCV002999531.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 11, 2024