ClinVar Genomic variation as it relates to human health
NM_002744.6(PRKCZ):c.1668C>G (p.Pro556=)
Germline
Classification
(1)
Likely benign
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 | |||
FAAP20 | - | - |
GRCh38 GRCh37 |
9 | 152 | |
PRKCZ | - | - |
GRCh38 GRCh37 |
10 | 169 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 1, 2022 | RCV002292719.14 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024