ClinVar Genomic variation as it relates to human health
NM_032510.4(PARD6G):c.1120G>T (p.Val374Phe)
Germline
Classification
(1)
Uncertain significance
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 | |||
LOC130062804 | - | - | - | GRCh38 | - | 73 |
PARD6G | - | - |
GRCh38 GRCh37 |
3 | 188 | |
PARD6G-AS1 | - | - | - | GRCh38 | - | 85 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 5, 2023 | RCV003284448.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023